Sesh Kamal Sunkara Aberdeen Fertility Centre Aberdeen Maternity Hospital University of Aberdeen Aberdeen, UK

Size: px
Start display at page:

Download "Sesh Kamal Sunkara Aberdeen Fertility Centre Aberdeen Maternity Hospital University of Aberdeen Aberdeen, UK"

Transcription

1 Sesh Kamal Sunkara Aberdeen Fertility Centre Aberdeen Maternity Hospital University of Aberdeen Aberdeen, UK Declared no potential conflict of interest

2 Genetic aetiology of poor and hyper responders Sesh Sunkara

3 Background Poor and hyper responders: two ends of the spectrum of response to ovarian stimulation Challenge to controlled ovarian stimulation (COS) Implications for IVF outcomes Long term consequences health implications

4 Poor ovarian response Depletion of ovarian follicle pool Insufficient initial follicle number Accelerated follicle loss Ovarian follicle dysfunction Signalling defect Enzyme deficiency Autoimmunity De Vos et al., LANCET. 2010

5 POR: aetiology Advanced age Genetic conditions Chromosomal anomalies Gene mutations Acquired conditions Endometriomas Chemo/ radiotherapy Ovarian surgery De Vos et al., LANCET. 2010

6 POR: genetic aetiology Chromosomal abnormalities Numerical: Turner syndrome Structural: macrodeletions (Xq; Xp) Genetic variations FMR1 FSH receptor mutation LH β polypeptide mutation De Vos et al., LANCET. 2010

7 Chromosomal abnormalities Higher incidence among subfertile women vs general population 1.5% - 3.3% vs 0.16% (Schreurs et al., Fertil Steril 2000; van der Ven et al., Hum Reprod 2000) Only small to moderate reproductive risk X chromosome loss - significant correlation with female age (Guttenbach et al., Am J Hum Genet 1995)

8 Sex chromosome aneuploidy Low level sex chromosome mosaicism Twice more common among subfertile women 9.6% vs 4.8% (Morel et al., Hum Reprod 2002) Impact of X chromosome mosaicism on IVF outcome? Congenital vs acquired age related mosaicism

9 Age (years) 33.3± ±0.80 Group I = 38 ICSI cycles in women with low level sex chromosome mosaicism Group II = 38 ICSI cycles in control group without chromosomal abnormality

10

11 Turner syndrome 4% 4% Incidence: 1/ 2500 newborn girls Ovarian dysgenesis 45% 45,X0 karyotype 9% 45,X0 46,Xi(Xq) 46% 45,X mosiacism 16% 45,X/46,XrX 45,X/Y+mosaicism 46,XdelX, and others 21% Danodille et al., Eur J Endocrinol 2012 Premature ovarian insufficiency with 45,X0 karyotype Variable phenotype with mosaics related to proportion/ location of affected cells Spectrum of POR to POI

12 J Pediatr Adolesc Gynecol 2014

13 X chromosome regions for ovarian function Portnoi et al., Hum Reprod 2006

14 X chromosome abnormalities and ovarian insufficiency X numerical abnormalities X-autosomal translocation X structural abnormalities XY cell line 5% 14% 52% 29% Jiao et al., Hum Reprod 2012

15 Genes linked to ovarian function De Vos et al., LANCET. 2010

16 FMR1 gene X chromosome FMR1 (fragile X mental retardation 1) gene located on the long (q) arm of the X chromosome at position 27.3 Codes for fragile X mental retardation protein (FMRP) FMRP essential for cognitive development and female reproductive function

17 FMR1 gene FMR1 gene contains a DNA segment CGG trinucleotide Four categories based on CGG repeat length Normal: FMR1 CGG repeat length < 45 Intermediate or gray zone : repeats Premutation: repeats Full mutation: 200 CGG repeats

18 FMR1 gene CGG repeats and ovarian reserve Gleicher et al., Fertil Steril 2009

19 FMR1 gene CGG repeats and ovarian function Karimov et al., Hum Reprod 2011 FMR1 premutation identified in % of women with PO1 (Conway et al., Hum Reprod 1998; Murray etal., J Med Genet 1998; Gersak et al., Hum Reprod 2003; Bussani et al., Eur J Obstet Gynecol Reprod Biol 2004)

20 FMR1 premutation and ovarian insufficiency Tosh et al., Arch Gynecol Obstet 2014

21 FSH receptor gene Chromosome 2p21 p16 Rousseau-Merck et al., Genomics 1992

22 FSH receptor genotype and ovarian response Perez Mayorga et al., JCEM 2000

23

24

25 Genetics of PCOS Complex polygenic trait Several genes in the multiple biochemical pathways implicated Genes involved in ovarian steroidogenic hormones Genes involved in steroid hormone effects Gonadotrophin release and action genes Insulin secretion and action genes Adipose tissue metabolism genes Pro-inflammatory cytokine/ cytokine receptor genes

26 Interaction of genetics and environment Deligeoroglou et al., Gynecol Endocrinol 2009

27 Genes involved in steroid biosynthesis HSD17B5 CYP19 Qin et al., JCEM 2006, Jin et al., BMC Med Genet 2012

28 Genes involved in steroid hormone effect Higher frequency of AR gene polymorphism in PCOS (Hickey et al., JCEM 2002) Correlation between increased serum testosterone and AR gene polymorphism Positive correlation between SHBG gene polymorphism and PCOS (Ferk et al., Hum Reprod 2007) Decreased SHBG concentrations contribute to increased androgen output to tissues

29 Genes related to insulin Genes related to insulin secretion and action Insulin gene on chromosome 11 Insulin receptor gene on chromosome 19 Insulin receptor substrate (IRS) -1 gene (Ruan et al., Endocr J 2012) IRS 2 gene Insulin growth factor (IGF) 1 gene IGF 2 gene (Millan et al., JCEM 2004)

30 Genetic basis of PCOS PCOS genes still await clearer unfolding Difficulties with genetic studies in PCOS Different diagnostic criteria Varied phenotypes Inadequate understanding of the pathophysiology Small sample size Failure to attempt replication of findings Lack of an animal model

31 Genetic basis of PCOS

32 Genome wide association studies Significant copy number variations (CNVs) among women with POI (Aboura et al., JCEM 2009) Strong association between PCOS and 3 loci: 2p16.3, 2p21 and 9q33.3 (Chen et al., Nat Genet 2011)

33 Conclusion Underlying genetics determining Ovarian reserve Ovarian response to stimulation POR and POI Hyper response and susceptibility to OHSS Further elucidation with advances in genetic evaluation Incorporation of pharmacogenomics into individualised fertility management

34 Thank you

35 Thank you

36 Thank you

37 Thank you

The emergence of Personalized Medicine protocols for IVF.

The emergence of Personalized Medicine protocols for IVF. Individualising IVF: Introduction to the POSEIDON Concept Introduction The emergence of Personalized Medicine protocols for IVF. Differences between patients: age, ovarian reserve, BMI or presence of ovarian

More information

Short Report. B Lakhal a, R Braham b, R Berguigua a, N Bouali a, M Zaouali c, M Chaieb b, RA Veitia d,e,f, A Saad a,g and H Elghezal a,g

Short Report. B Lakhal a, R Braham b, R Berguigua a, N Bouali a, M Zaouali c, M Chaieb b, RA Veitia d,e,f, A Saad a,g and H Elghezal a,g Clin Genet 2010: 78: 181 185 Printed in Singapore. All rights reserved Short Report 2010 John Wiley & Sons A/S CLINICAL GENETICS doi: 10.1111/j.1399-0004.2009.01359.x Cytogenetic analyses of premature

More information

Evidence-based treatment of POR and POF. Ovarian Club X and CoGEN in Asia December 16-17, 2017 Hong Kong

Evidence-based treatment of POR and POF. Ovarian Club X and CoGEN in Asia December 16-17, 2017 Hong Kong Evidence-based treatment of POR and POF Norbert Gleicher, MD Medical Director and Chief Scientist, Center For Human Reproduction, New York, NY Presi d ent, Foundation For Reproductive Medicine, New York,

More information

This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing.

This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing. 11111 Fact Sheet 54 FRAGILE X SYNDROME This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing. In summary Fragile X is a condition caused

More information

What is the POSEIDON concept?

What is the POSEIDON concept? Improving Success in ART: how to define it and key strategies to get the best outcomes, Kiev, 21-09-2018 What is the POSEIDON concept? Alessandro Conforti Italy Objectives Unravel the definition of POR

More information

Number of oocytes and live births in IVF

Number of oocytes and live births in IVF Number of oocytes and live births in IVF Dr Sesh K Sunkara MD, MRCOG Royal Marsden Hospital, London Kings Healthcare Partners (Guy s & St Thomas NHS Foundation Trust), London, UK Background IVF results

More information

Population Screening for Fragile X Syndrome

Population Screening for Fragile X Syndrome Population Screening for Fragile X Syndrome FLORA TASSONE PH.D. DEPARTMENT OF BIOCHEMISTRY AND MOLECULAR MEDICINE AND MIND INSTITUTE UC DAVIS, CALIFORNIA USA Molecular Pathology: Principles in Clinical

More information

Overview of Reproductive Endocrinology

Overview of Reproductive Endocrinology Overview of Reproductive Endocrinology I have no conflicts of interest to report. Maria Yialamas, MD Female Hypothalamic--Gonadal Axis 15 4 Hormone Secretion in the Normal Menstrual Cycle LH FSH E2, Progesterone,

More information

Dia 1. Dia 2 Turner syndrome. Dia 3 Turner syndrome. Turner syndrome. Henri Timmers internist-endocrinologist

Dia 1. Dia 2 Turner syndrome. Dia 3 Turner syndrome. Turner syndrome. Henri Timmers internist-endocrinologist Dia 1 Turner syndrome Henri Timmers internist-endocrinologist Dept. of internal medicine Section of endocrinology Dia 2 Turner syndrome 1938 Henry Turner: description of clinical triad: - - short stature

More information

S. AMH in PCOS Research Insights beyond a Diagnostic Marker

S. AMH in PCOS Research Insights beyond a Diagnostic Marker S. AMH in PCOS Research Insights beyond a Diagnostic Marker Dr. Anushree D. Patil, MD. DGO Scientist - D National Institute for Research in Reproductive Health (Indian Council of Medical Research) (Dr.

More information

Fragile X Syndrome and Infertility Case Example - Not One, but Three

Fragile X Syndrome and Infertility Case Example - Not One, but Three Vol. 008 Fragile X Syndrome and Infertility Fragile X Syndrome and Infertility Case Example - Not One, but Three Abstract A case review of a female patient who was treated for infertility of unknown reasons

More information

Influence ovarian stimulation on oocyte and embryo quality. Prof.Dr. Bart CJM Fauser

Influence ovarian stimulation on oocyte and embryo quality. Prof.Dr. Bart CJM Fauser Influence ovarian stimulation on oocyte and embryo quality Prof.Dr. Bart CJM Fauser How to balance too much vs too little? Lecture Outline Context ovarian stimulation Impact ovarian stimulation on oocyte

More information

Dr. Ernesto Bosch Instituto Valenciano de Infertilidad Valencia, Spain. Declared no potential conflict of interest

Dr. Ernesto Bosch Instituto Valenciano de Infertilidad Valencia, Spain. Declared no potential conflict of interest Dr. Ernesto Bosch Instituto Valenciano de Infertilidad Valencia, Spain Declared no potential conflict of interest Is there a role for LH in elderly patients? Dr. Ernesto Bosch Instituto Valenciano de Infertilidad.

More information

EVOLVE FERTILITY GENETIC SCREENS

EVOLVE FERTILITY GENETIC SCREENS LEADERS IN GENETIC FERTILITY SCREENING TM FOR MEN & WOMEN EVOLVE FERTILITY GENETIC SCREENS The most advanced and comprehensive fertility genetic screens on the market today. SCREEN TODAY. PROTECT TOMORROW.

More information

Are we Close to Solve the Mystery of Fragile X Associated Premature Ovarian Insufficiency (FXPOI) in FMR1 Premutation Carriers?

Are we Close to Solve the Mystery of Fragile X Associated Premature Ovarian Insufficiency (FXPOI) in FMR1 Premutation Carriers? Are we Close to Solve the Mystery of Fragile X Associated Premature Ovarian Insufficiency (FXPOI) in FMR1 Premutation Carriers? Yoram Cohen M.D. Department of Obstetrics and Gynecology, IVF Unit, Sheba

More information

Androgen supplementation in women with low functional ovarian reserve

Androgen supplementation in women with low functional ovarian reserve Androgen supplementation in women with low functional ovarian reserve Norbert Gleicher, MD Medical Director and Chief Scientist, Center For Human Reproduction, New York, NY President, Foundation For Reproductive

More information

EVOLVE GENETIC FERTILITY SCREENS

EVOLVE GENETIC FERTILITY SCREENS LEADERS IN GENETIC FERTILITY SCREENING TM FOR MEN & WOMEN EVOLVE GENETIC FERTILITY SCREENS The most advanced and comprehensive pre-ivf fertility screens on the market today. SCREEN TODAY. PROTECT TOMORROW.

More information

How to supplement hypo-androgenic women correctly

How to supplement hypo-androgenic women correctly How to supplement hypo-androgenic women correctly Norbert Gleicher, MD Medical Director and Chief Scientist, Center For Human Reproduction, New York, NY President, Foundation For Reproductive Medicine,

More information

A Tale of Three Hormones: hcg, Progesterone and AMH

A Tale of Three Hormones: hcg, Progesterone and AMH A Tale of Three Hormones: hcg, Progesterone and AMH Download the Ferring AR ipad/iphone app from the Apple Store: http://bit.ly/1okk74m Human Ovarian Steroidogenesis and Gonadotrophin Stimulation Johan

More information

SCHOOL OF MEDICINE AND HEALTH SCIENCES DIVISION OF BASIC MEDICAL SCIENCES DISCIPLINE OF BIOCHEMISTRY & MOLECULAR BIOLOGY

SCHOOL OF MEDICINE AND HEALTH SCIENCES DIVISION OF BASIC MEDICAL SCIENCES DISCIPLINE OF BIOCHEMISTRY & MOLECULAR BIOLOGY 1 SCHOOL OF MEDICINE AND HEALTH SCIENCES DIVISION OF BASIC MEDICAL SCIENCES DISCIPLINE OF BIOCHEMISTRY & MOLECULAR BIOLOGY PBL SEMINAR: SEX HORMONES PART 1 An Overview What are steroid hormones? Steroid

More information

Advanced age, poor responders and the role of LH supplementation. C. Alviggi University Federico II, Naples, Italy

Advanced age, poor responders and the role of LH supplementation. C. Alviggi University Federico II, Naples, Italy Advanced age, poor responders and the role of LH supplementation C. Alviggi University Federico II, Naples, Italy LH serum level (IU/L) 20.0 15.0 10.0 5.0 0.0 LH levels during spontaneous and stimulated

More information

Committee Paper SCAAC(05/09)01. ICSI guidance. Hannah Darby and Rachel Fowler

Committee Paper SCAAC(05/09)01. ICSI guidance. Hannah Darby and Rachel Fowler Committee Paper Committee: Scientific and Clinical Advances Advisory Committee Meeting Date: 12 May 2009 Agenda Item: 4 Paper Number: SCAAC(05/09)01 Paper Title: ICSI guidance Author: Hannah Darby and

More information

INFERTILITY GENETIC TESTING. Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science

INFERTILITY GENETIC TESTING. Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science INFERTILITY GENETIC TESTING Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science INFERTILITY GENETIC TESTING It is estimated that genetics are

More information

Ontogeny of the new hypo-androgenic PCOS phenotype

Ontogeny of the new hypo-androgenic PCOS phenotype Ontogeny of the new hypo-androgenic PCOS phenotype Norbert Gleicher, MD Medical Director and Chief Scientist, Center For Human Reproduction, New York, NY President, Foundation For Reproductive Medicine,

More information

FEP Medical Policy Manual

FEP Medical Policy Manual FEP Medical Policy Manual Effective Date: April 15, 2018 Related Policies: 2.04.59 Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Genetic

More information

Lab Activity 36. Principles of Heredity. Portland Community College BI 233

Lab Activity 36. Principles of Heredity. Portland Community College BI 233 Lab Activity 36 Principles of Heredity Portland Community College BI 233 Terminology of Chromosomes Homologous chromosomes: A pair, of which you get one from mom, and one from dad. Example: the pair of

More information

The menstrual Cycle. François Pralong

The menstrual Cycle. François Pralong The menstrual Cycle François Pralong Services d Endocrinologie, Diabétologie et Métabolisme, Hôpitaux Universitaires de Genève et Lausanne Centre des Maladies CardioVasculaires et Métaboliques, Lausanne

More information

1042SCG Genetics & Evolutionary Biology Semester Summary

1042SCG Genetics & Evolutionary Biology Semester Summary 1042SCG Genetics & Evolutionary Biology Semester Summary Griffith University, Nathan Campus Semester 1, 2014 Topics include: - Mendelian Genetics - Eukaryotic & Prokaryotic Genes - Sex Chromosomes - Variations

More information

How effective is egg freezing as a preventative treatment for young women in securing their ability to reproduce later in life?

How effective is egg freezing as a preventative treatment for young women in securing their ability to reproduce later in life? How effective is egg freezing as a preventative treatment for young women in securing their ability to reproduce later in life? Vitaly A. Kushnir MD Center for Human Reproduction New York City Milestones

More information

Primary Ovarian Insufficiency (POI)

Primary Ovarian Insufficiency (POI) Primary Ovarian Insufficiency (POI) Aaron Lim, M.D., M.B.A. Division of Reproductive Endo & Inf Dept of Obstetric-Gynecology Kaiser Downey Medical Center Assistant Clinical Professor UCLA David Geffen

More information

INSULIN RESISTANCE, POLYCYSTIC OVARIAN SYNDROME An Overview

INSULIN RESISTANCE, POLYCYSTIC OVARIAN SYNDROME An Overview INSULIN RESISTANCE, POLYCYSTIC OVARIAN SYNDROME An Overview University of PNG School of Medicine & Health Sciences Division of Basic Medical Sciences PBL MBBS III VJ Temple 1 Insulin Resistance: What is

More information

CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi

CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi 2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000

More information

Subfertility/Infertility Assessment in the Medical Laboratory

Subfertility/Infertility Assessment in the Medical Laboratory Article Subfertility/Infertility Assessment in the Medical Laboratory PD Dr. med. habil. Michaela Jaksch, Consultant Laboratory Medicine, Medical Director, Freiburg Medical Laboratory ME LLC, Dubai, UAE

More information

Polycystic Ovary Syndrome

Polycystic Ovary Syndrome Polycystic Ovary Syndrome Definition: the diagnostic criteria Evidence of hyperandrogenism, biochemical &/or clinical (hirsutism, acne & male pattern baldness). Ovulatory dysfunction; amenorrhoea; oligomenorrhoea

More information

The menstrual cycle. François Pralong

The menstrual cycle. François Pralong The menstrual cycle François Pralong Services d Endocrinologie, Diabétologie et Métabolisme, Hôpitaux Universitaires de Genève et Lausanne Centre des Maladies CardioVasculaires et Métaboliques, Lausanne

More information

Management of Patients With Premature Ovarian Insufficiency

Management of Patients With Premature Ovarian Insufficiency Management of Patients With Premature Ovarian Insufficiency Prof. Dr. H. Cavidan Gülerman Sağlık Bilimleri Üniversitesi Ankara Dr. Zekai Tahir Burak SUAM XII. Türk Alman Jinekoloji Kongresi 28 Nisan 2018

More information

Action of reproductive hormones through the life span 9/22/99

Action of reproductive hormones through the life span 9/22/99 Action of reproductive hormones through the life span Do reproductive hormones affect the life span? One hypothesis about the rate of aging asserts that there is selective pressure for either high rate

More information

clinical outcome and hormone profiles before and after laparoscopic electroincision of the ovaries in women with polycystic ovary syndrome

clinical outcome and hormone profiles before and after laparoscopic electroincision of the ovaries in women with polycystic ovary syndrome & clinical outcome and hormone profiles before and after laparoscopic electroincision of the ovaries in women with polycystic ovary syndrome Zulfo Godinjak¹*, Ranka Javorić² 1 Gynecology and Obstetrics

More information

Reproductive outcome in women with body weight disturbances

Reproductive outcome in women with body weight disturbances Reproductive outcome in women with body weight disturbances Zeev Shoham M.D. Dep. Of OB/GYN Kaplan Hospital, Rehovot, Israel Weight Status BMI (kg/m 2 ) Underweight

More information

PCOS-Understanding the Science and Practice. Inositols. Maurizio Nordio, University Sapienza, Rome, Italy Mumbai, June 18th, 2016

PCOS-Understanding the Science and Practice. Inositols. Maurizio Nordio, University Sapienza, Rome, Italy Mumbai, June 18th, 2016 PCOS-Understanding the Science and Practice Inositols Maurizio Nordio, University Sapienza, Rome, Italy Mumbai, June 18th, 2016 maurizionordio1@gmail.com PCOS and insulin It is well known that a strong

More information

Premature Menopause : Diagnosis and Management

Premature Menopause : Diagnosis and Management Guideline Number 3 : August 2010 Premature Menopause : Diagnosis and Management Introduction : Premature menopause is a serious condition that affects young women and remains an enigma. The challenges

More information

IVM in PCOS patients. Introduction (1) Introduction (2) Michael Grynberg René Frydman

IVM in PCOS patients. Introduction (1) Introduction (2) Michael Grynberg René Frydman IVM in PCOS patients Michael Grynberg René Frydman Department of Obstetrics and Gynecology A. Beclere Hospital, Clamart, France Maribor, Slovenia, 27-28 February 2009 Introduction (1) IVM could be a major

More information

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency American College of Medical Genetics and Genomics Original Research Article Open Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian

More information

Sex chromosomes and sex determination

Sex chromosomes and sex determination Sex chromosomes and sex determination History (1) 1940-ties Alfred Jost embryo-surgical experiments on gonads gonadal sex; male gonadal sex presence of testes; female gonadal sex lack of testes. History

More information

IVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW

IVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW IVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW Jon Havelock, MD, FRCSC, FACOG Co-Director - PCRM Disclosure No conflict of interest in relation

More information

A Tale of Three Hormones: hcg, Progesterone and AMH

A Tale of Three Hormones: hcg, Progesterone and AMH A Tale of Three Hormones: hcg, Progesterone and AMH Download the Ferring AR ipad/iphone app from the Apple Store: http://bit.ly/1okk74m Interpreting Follicular Phase Progesterone Ernesto Bosch IVI Valencia,

More information

IOF POI. hypergonadotropic hypogonadism primary ovarian insufficiency POI /premature ovarian failure POF. Van Kasteren. Coulam POI FSH E.

IOF POI. hypergonadotropic hypogonadism primary ovarian insufficiency POI /premature ovarian failure POF. Van Kasteren. Coulam POI FSH E. hypergonadotropic hypogonadism primary ovarian insufficiency POI /premature ovarian failure POF Coulam POI Turner Fragile X premutation FSHR NOBOX FOXL etc POI FSH miu/ml AMH AMH AMH FSH / Knauff POI IOF

More information

Chromosome Mutations

Chromosome Mutations Chromosome Mutations Variation in Chromosome Number Euploidy: having full sets of chromosomes Haploid Diploid Triploid Aneuploidy: having anything other than full sets of chromosomes Monosomy Trisomy Variation

More information

DEFINITION: Masculinization of external genitalia in patients with normal 46XX karyotype.

DEFINITION: Masculinization of external genitalia in patients with normal 46XX karyotype. INTERSEX DISORDERS DEFINITION: Masculinization of external genitalia in patients with normal 46XX karyotype. - Degree of masculinization variable: - mild clitoromegaly - complete fusion of labia folds

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Genetic Testing for FMR1 Mutations Including Fragile X Syndrome File Name: Origination: Last CAP Review Next CAP Review Last Review genetic_testing_for_fmr1_mutations_including_fragile_x_syndrome

More information

MULTIPLE CHOICE QUESTIONS

MULTIPLE CHOICE QUESTIONS SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in

More information

Reproductive FSH. Analyte Information

Reproductive FSH. Analyte Information Reproductive FSH Analyte Information 1 Follicle-stimulating hormone Introduction Follicle-stimulating hormone (FSH, also known as follitropin) is a glycoprotein hormone secreted by the anterior pituitary

More information

Genes and Genetic Diseases. Gene: Is a fundamental unit of information storage.

Genes and Genetic Diseases. Gene: Is a fundamental unit of information storage. GENETIC DISORDERS Genes and Genetic Diseases Gene: Is a fundamental unit of information storage. Genes determine the type of proteins and enzymes that are made by the cell. Genes control inheritance and

More information

Hold On To Your Dreams

Hold On To Your Dreams Hold On To Your Dreams Dr. Michael Kettel Dr. Sandy Chuan 1. THE BASICS OF IVF & EMBRYO DEVELOPMENT 2. IVF ADD-ONS - MYTH VS. SCIENCE IN VITRO FERTILIZATION 1. Ovarian Stimulation 2. Egg Retrieval 3. Create

More information

(BMI)=18.0~24.9 kg/m 2 ;

(BMI)=18.0~24.9 kg/m 2 ; 33 10 Vol.33 No.10 2013 10 Oct. 2013 Reproduction & Contraception doi: 10.7669/j.issn.0253-357X.2013.10.0672 E-mail: randc_journal@163.com - ( 400013) : () GnRH-a - () : IVF- ET 233 A (I~II 102 ) B (III~IV

More information

Gonadotrophin treatment in patients with Polycystic Ovary Syndrome

Gonadotrophin treatment in patients with Polycystic Ovary Syndrome Int. J. Adv. Res. Biol. Sci. (218). 5(4): 95-99 International Journal of Advanced Research in Biological Sciences ISSN: 2348-869 www.ijarbs.com DOI: 1.22192/ijarbs Coden: IJARQG(USA) Volume 5, Issue 4-218

More information

PCOS What s new in Diagnosis & Treatment?

PCOS What s new in Diagnosis & Treatment? PCOS What s new in Diagnosis & Treatment? Roy Homburg Maccabi Medical Services and Barzilai Medical Centre, Ashkelon, Israel. Antalya, October, 2009 PCOS diagnosis - 1990 NIH criteria - Hyperandrogenism

More information

DOES INSULIN RESISTANCE CAUSE HYPERANDROGENEMIA OR HYPERANDROGENEMIA CAUSES INSULIN RESISTANCE IN PCOS

DOES INSULIN RESISTANCE CAUSE HYPERANDROGENEMIA OR HYPERANDROGENEMIA CAUSES INSULIN RESISTANCE IN PCOS DOES INSULIN RESISTANCE CAUSE HYPERANDROGENEMIA OR HYPERANDROGENEMIA CAUSES INSULIN RESISTANCE IN PCOS D R. G A N A P A T H I. B D E P T. O F E N D O C R I N O L O G Y S T. J O H N S M E D I C A L C O

More information

SEX STERIOD HORMONES I: An Overview. University of PNG School of Medicine & Health Sciences Division of Basic Medical Sciences PBL MBBS III VJ Temple

SEX STERIOD HORMONES I: An Overview. University of PNG School of Medicine & Health Sciences Division of Basic Medical Sciences PBL MBBS III VJ Temple SEX STERIOD HORMONES I: An Overview University of PNG School of Medicine & Health Sciences Division of Basic Medical Sciences PBL MBBS III VJ Temple 1 What are the Steroid hormones? Hormones synthesized

More information

Male History, Clinical Examination and Testing

Male History, Clinical Examination and Testing Male History, Clinical Examination and Testing Dirk Vanderschueren, MD, PhD Case Jan is 29 years old and consults for 1 year primary subfertility partner 28 years old and normal gynaecological investigation

More information

www.iffs-reproduction.org @IntFertilitySoc Int@FedFertilitySoc Conflict of interest none Outline Causes of ovulatory dysfunction Assessment of women with ovulatory dysfunction Management First line Second

More information

7.1 Molecular Characterization of Fragile X Syndrome

7.1 Molecular Characterization of Fragile X Syndrome 7 GENETIC DISORDERS Advances in knowledge of molecular genetics, cytogenetics and biochemical genetics have led to availability of diagnostic tests for various genetic disorders. The most important application

More information

- Meta. : (rfsh); (ufsh); (IVF); : R711.6 : A : X(2015) : hmg( FSH LH) [ufsh, (ufsh-p) (ufsh-hp)] (rfsh) [1] 80, rfsh, 90, :

- Meta. : (rfsh); (ufsh); (IVF); : R711.6 : A : X(2015) : hmg( FSH LH) [ufsh, (ufsh-p) (ufsh-hp)] (rfsh) [1] 80, rfsh, 90, : 35 2 Vol.35 No.2 2015 2 Feb. 2015 Reproduction & Contraception doi: 10.7669/j.issn.0253-357X.2015.02.0099 E-mail: randc_journal@163.com (FSH) - Meta FSH ( 400010) : (IVF) (ICSI) (rfsh) (ufsh) (COS) : PubMed

More information

DOWNLOAD OR READ : REVERSING PREMATURE OVARIAN FAILURE PDF EBOOK EPUB MOBI

DOWNLOAD OR READ : REVERSING PREMATURE OVARIAN FAILURE PDF EBOOK EPUB MOBI DOWNLOAD OR READ : REVERSING PREMATURE OVARIAN FAILURE PDF EBOOK EPUB MOBI Page 1 Page 2 reversing premature ovarian failure reversing premature ovarian failure pdf reversing premature ovarian failure

More information

lbt lab tests t Conrolled Ovarian Hyperstimulation Dr Soheila Ansaripour

lbt lab tests t Conrolled Ovarian Hyperstimulation Dr Soheila Ansaripour lbt lab tests t and Conrolled Ovarian Hyperstimulation Dr Soheila Ansaripour Research Instituteof Avicenna 4/23/2012 Why good prediction of poor response good prediction i of OHSS application appropriate

More information

LOW RESPONDERS. Poor Ovarian Response, Por

LOW RESPONDERS. Poor Ovarian Response, Por LOW RESPONDERS Poor Ovarian Response, Por Patients with a low number of retrieved oocytes despite adequate ovarian stimulation during fertility treatment. Diagnosis Female About Low responders In patients

More information

Treatment of Poor Responders

Treatment of Poor Responders Treatment of Poor Responders Pathophysiology of Poor Responders Deficiency in systemic IGF 1 levels (Bahceci, 2007) Lower intra ovarian T levels Reduced FSH receptor expression (Cai, 2007) Bahceci, 2007,

More information

The Adolescent: A Patient at Risk: Ovarian Failure in Adolescent Cancer Survivors

The Adolescent: A Patient at Risk: Ovarian Failure in Adolescent Cancer Survivors The Adolescent: A Patient at Risk: Ovarian Failure in Adolescent Cancer Survivors Avner Hershlag MD Professor and Chief Center for Human Reproduction North Shore LIJ Hofsra university School of Medicine

More information

Nothing more controversial than PGS

Nothing more controversial than PGS Nothing more controversial than PGS Norbert Gleicher, MD M e d i c a l D i r e c t o r a n d C h i e f S c i e n t i s t, C e n t e r F o r H u m a n R e p ro d u c t i o n, N e w Yo r k, N Y P r e s i

More information

LECTURE 12 B: GENETIC AND INHERITANCE

LECTURE 12 B: GENETIC AND INHERITANCE LECTURE 12 B: GENETIC AND INHERITANCE Mendel s Legacy Genetics is everywhere these days and it will continue as a dominant force in biology and society for decades to come. Wouldn t it be nice if people

More information

Intermediate and normal sized CGG repeat on the FMR1 gene does not negatively affect donor ovarian response

Intermediate and normal sized CGG repeat on the FMR1 gene does not negatively affect donor ovarian response Human Reproduction, Vol.0, No.0 pp. 1 6, 2011 doi:10.1093/humrep/der415 Hum. Reprod. Advance Access published December 7, 2011 ORIGINAL ARTICLE Reproductive genetics Intermediate and normal sized CGG repeat

More information

Approach to Mental Retardation and Developmental Delay. SR Ghaffari MSc MD PhD

Approach to Mental Retardation and Developmental Delay. SR Ghaffari MSc MD PhD Approach to Mental Retardation and Developmental Delay SR Ghaffari MSc MD PhD Introduction Objectives Definition of MR and DD Classification Epidemiology (prevalence, recurrence risk, ) Etiology Importance

More information

Individualized treatment based on ovarian reserve markers

Individualized treatment based on ovarian reserve markers Individualized treatment based on ovarian reserve markers Prof Dr. Nikolaos P. Polyzos M.D. PhD Professor and Medical Co- Director, Vrije Universiteit Brussel, UZ Brussel, Belgium Professor of Reproduc?ve

More information

Mutations. New inherited traits, or mutations, may appear in a strain of plant or animal.

Mutations. New inherited traits, or mutations, may appear in a strain of plant or animal. Genetic Mutations Mutations New inherited traits, or mutations, may appear in a strain of plant or animal. The first individual showing the new trait is called a mutant. 2 Types of Mutations Chromosomal

More information

06-Mar-17. Premature menopause. Menopause. Premature menopause. Menstrual cycle oestradiol. Premature menopause. Prevalence ~1% Higher incidence:

06-Mar-17. Premature menopause. Menopause. Premature menopause. Menstrual cycle oestradiol. Premature menopause. Prevalence ~1% Higher incidence: Menopause Dr Sonia Davison MBBS FRACP PhD Endocrinologist and Clinical Fellow, Jean Hailes for Women s Health Women s Health Research Program, Monash University = the last natural menstrual period depletion

More information

Genomics and Genetics in Healthcare. By Mary Knutson, RN, MSN

Genomics and Genetics in Healthcare. By Mary Knutson, RN, MSN Genomics and Genetics in Healthcare By Mary Knutson, RN, MSN Clinical Objectives Understand the importance of genomics to provide effective nursing care Integrate genetic knowledge and skills into nursing

More information

Genetic Assessment and Counseling

Genetic Assessment and Counseling Genetic Assessment and Counseling Genetic counseling is the communication of information and advice about inherited conditions and a person seeking such advice is called a consultand. This process includes

More information

2/14/2017. Pre Pregnancy Tune Up: Predicting Success and Avoiding Liability. Objectives. Disclosure. Participant will be able to:

2/14/2017. Pre Pregnancy Tune Up: Predicting Success and Avoiding Liability. Objectives. Disclosure. Participant will be able to: Pre Pregnancy Tune Up: Predicting Success and Avoiding Liability February 9, 2017 G. Wright Bates, Jr., M.D. Professor and Director Reproductive Endocrinology and Infertility Objectives Participant will

More information

FSH pharmacogenetics

FSH pharmacogenetics 5th World Congress on Ovulation Induction Roma, 13 15 September 2007 FSH pharmacogenetics Hermann M. Behre Center of Reproductive Medicine and Andrology, University Hospital Halle, Germany & Manuela Simoni

More information

Polycystic Ovary Syndrome HEATHER BURKS, MD OU PHYSICIANS REPRODUCTIVE MEDICINE SEPTEMBER 21, 2018

Polycystic Ovary Syndrome HEATHER BURKS, MD OU PHYSICIANS REPRODUCTIVE MEDICINE SEPTEMBER 21, 2018 Polycystic Ovary Syndrome HEATHER BURKS, MD OU PHYSICIANS REPRODUCTIVE MEDICINE SEPTEMBER 21, 2018 Learning Objectives At the conclusion of this lecture, learners should: 1) Know the various diagnostic

More information

Poor & Hyper responders: what is the best approach?

Poor & Hyper responders: what is the best approach? Poor & Hyper responders: what is the best approach? A. La Marca ObGyn Dept University of Modena and Reggio Emilia Italy Center for Reproductive Medicine University Hospital of Modena Italy Criteria used

More information

14 1 Human Heredity. Week 8 vocab Chapter 14

14 1 Human Heredity. Week 8 vocab Chapter 14 Week 8 vocab Chapter 14 Vocab 1. Karyotype 5. sex-linked gene 2. sex chromosome 6. nondisjunction 3. pedigree 7. DNA fingerprinting 4. Polygenic 1 of 43 Biology Biology 2 of 43 14-1 Human Heredity 3 of

More information

Chromosome pathology

Chromosome pathology Chromosome pathology S. Dahoun Department of Gynecology and Obstetrics, University Hospital of Geneva Cytogenetics is the study of chromosomes and the related disease states caused by abnormal chromosome

More information

Reproduction. AMH Anti-Müllerian Hormone. Analyte Information

Reproduction. AMH Anti-Müllerian Hormone. Analyte Information Reproduction AMH Anti-Müllerian Hormone Analyte Information - 1-2011-01-11 AMH Anti-Müllerian Hormone Introduction Anti-Müllerian Hormone (AMH) is a glycoprotein dimer composed of two 72 kda monomers 1.

More information

Is it the seed or the soil? Arthur Leader, MD, FRCSC

Is it the seed or the soil? Arthur Leader, MD, FRCSC The Physiological Limits of Ovarian Stimulation Is it the seed or the soil? Arthur Leader, MD, FRCSC Objectives 1. To consider how ovarian stimulation protocols work in IVF 2. To review the key events

More information

chromosomal anomalies and mental pdf Chapter 8: Chromosomes and Chromosomal Anomalies (PDF) Chromosomal abnormalities -A review - ResearchGate

chromosomal anomalies and mental pdf Chapter 8: Chromosomes and Chromosomal Anomalies (PDF) Chromosomal abnormalities -A review - ResearchGate DOWNLOAD OR READ : CHROMOSOMAL ANOMALIES AND MENTAL RETARDATION FROM GENOTYPES TO NEUROPSYCHOLOGICAL PHENOTYPES OF GENETIC SYNDROMES AT HIGH INCIDENCEGENOTYPE TO PHENOTYPE PDF EBOOK EPUB MOBI Page 1 Page

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance The Chromosomal Basis of Inheritance Factors and Genes Mendel s model of inheritance was based on the idea of factors that were independently assorted and segregated into gametes We now know that these

More information

ROLE OF HORMONAL ASSAY IN DIAGNOSING PCOD DR GAANA SREENIVAS (JSS,MYSURU)

ROLE OF HORMONAL ASSAY IN DIAGNOSING PCOD DR GAANA SREENIVAS (JSS,MYSURU) ROLE OF HORMONAL ASSAY IN DIAGNOSING PCOD DR GAANA SREENIVAS (JSS,MYSURU) In 1935, Stein and Leventhal described 7 women with bilateral enlarged PCO, amenorrhea or irregular menses, infertility and masculinizing

More information

24-Feb-15. Learning objectives. Family genetics: The future??? The traditional genetics. Genetics and reproduction in early 2015.

24-Feb-15. Learning objectives. Family genetics: The future??? The traditional genetics. Genetics and reproduction in early 2015. Learning objectives Family genetics: The future??? Peter Illingworth Medical Director IVFAustralia Understand how genetic problems may affect successful conception Consider the possible conditions and

More information

GONADAL FUNCTION: An Overview

GONADAL FUNCTION: An Overview GONADAL FUNCTION: An Overview University of PNG School of Medicine & Health Sciences Division of Basic Medical Sciences Clinical Biochemistry BMLS III & BDS IV VJ Temple 1 What are the Steroid hormones?

More information

Low-level X chromosome mosaicism in women with sporadic premature ovarian failure

Low-level X chromosome mosaicism in women with sporadic premature ovarian failure Reproductive BioMedicine Online (2011) 22, 399 403 www.sciencedirect.com www.rbmonline.com ARTICLE Low-level X chromosome mosaicism in women with sporadic premature ovarian failure K Gersak *, A Veble

More information

Nurse Prac**oner Educa*on in Developmental Disabili*es Webinar Series

Nurse Prac**oner Educa*on in Developmental Disabili*es Webinar Series Nurse Prac**oner Educa*on in Developmental Disabili*es Webinar Series Genetics and Genomics Bonnie R. Lanternier, ARNP In order for Nurse Practitioners to provide optimum care for individuals with developmental

More information

Screening non-classical 21-hydroxylase gene deficiency from patients diagnosed as polycystic ovary syndrome by gene assay HU Jie, JIAO Kai *

Screening non-classical 21-hydroxylase gene deficiency from patients diagnosed as polycystic ovary syndrome by gene assay HU Jie, JIAO Kai * Med J Chin PLA, Vol. 41, No. 3, March 1, 2016 227 21- [ ] (PCOS) 21- (NC-21OHD) 2014 2015 98 PCOS Ferriman-Gallway ( mf-g ) 3 mf-g 0~2 A 3~5 B 6 C30 DNA 5 CYP21A2 8 (ACTH) 30 98 PCOS 5 V281L/920-921insT(P1)

More information

Chapter 1 : Genetics 101

Chapter 1 : Genetics 101 Chapter 1 : Genetics 101 Understanding the underlying concepts of human genetics and the role of genes, behavior, and the environment will be important to appropriately collecting and applying genetic

More information

Fragile X Syndrome. Genetics, Epigenetics & the Role of Unprogrammed Events in the expression of a Phenotype

Fragile X Syndrome. Genetics, Epigenetics & the Role of Unprogrammed Events in the expression of a Phenotype Fragile X Syndrome Genetics, Epigenetics & the Role of Unprogrammed Events in the expression of a Phenotype A loss of function of the FMR-1 gene results in severe learning problems, intellectual disability

More information

New PCOS guidelines: What s relevant to general practice

New PCOS guidelines: What s relevant to general practice New PCOS guidelines: What s relevant to general practice Dr Michael Costello Fertility Specialist IVF Australia UNSW Royal Hospital for Women Sydney How do we know if something is new? Louvre Museum, Paris

More information

Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: A preliminary study

Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: A preliminary study Maturitas 57 (2007) 399 404 Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: A preliminary study Ana Maria Massad-Costa a, Ismael Dale Cotrim Guerreiro da Silva a, Regina

More information

FRAGILE X 101. A guide for the newly-diagnosed and those already living with Fragile X. fragilex.org

FRAGILE X 101. A guide for the newly-diagnosed and those already living with Fragile X. fragilex.org FRAGILE X 101 A guide for the newly-diagnosed and those already living with Fragile X. fragilex.org Introduction Most people first hear about Fragile X disorders when someone in their family is unexpectedly

More information