UCL. Gerard Conway. Treatment of AIS patients in multidisciplinary teams in UK. Tratamiento del SIA en equipos multidisciplinares en el Reino Unido
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1 UCL Treatment of AIS patients in multidisciplinary teams in UK Tratamiento del SIA en equipos multidisciplinares en el Reino Unido Gerard Conway London, UK
2 University College London Hospitals
3 University College London Hospital Great Ormond Street Hospital
4 DSD team at UCLH Gerard Conway Endocrinology and Genetics Lih Mei Liao Consultant Psychologist Sarah Creighton - Gynaecology
5 Determinants of sex and intersex Genetic sex male 46XY female, 45X, 46XX Gonadal sex Hermaphroditism / CAIS Genital sex Micropenis / Hypospadias Cliteromegaly - CAH
6 Determinants of sex and intersex Genetic sex Turner Syndrome XY gonadal dysgenesis - 60 Klinefelter syndrome 50 Gonadal sex CAIS 110 Partially virilised XY DSD - 94 Genital sex Adrenal Hyperplasia - 260
7 Embryonic sex differentiation SRY gene Testis determining factor gonad mesonephros Mullerian duct Y Indifferent stage Wolffian duct Male Antimullerian hormone Testosterone Female DHT
8 Spectrum of 46XY DSD Degree of virilisation Hypospadius PAIS Complete Androgen Insensitivity Syndrome
9 Defects in Testosterone Synthesis LH (hcg) Cholesterol Pregnenolone 17 hydroxy- Pregnenolone DHEAS Androstenedione Testosterone17 hydroxy steroid dehydrogenase Dihydrotestosterone 5α reductase Androgen receptor Androgen Insensitivity
10 CAIS Age of Presentation n Age of Diagnosis
11 DSD Adults Clinic problems 50% of DSD presents as adult Variable early experiences age < 25 very different from age > 30 Dispersed care Little psychology provision
12 DSD Adults Empowerment through knowledge and choice Choice of surgical / fertility / HRT options Pathogenesis and Genetics revisited Tracking long term consequences Group forum open days
13 Managing anatomy: the old medical approach Abnormality Problem Treatments DECREASES
14 Initial assessment Readiness to discuss Establishing a shared language Exploring relationship to diagnosis: Knowledge of diagnosis Meanings Emotional responses to diagnosis
15 Helping with decision making Medical treatment Surgery Fertility Genetic testing
16 Hormone replacement Which hormone? oestrogen testosterone progesterone Which route? tablets patch or gel vagina Which dose? up a little / down a little How long for? until the of 50?
17 Central psychological concerns Self disclosure (diagnosis, potential sexual difficulties, continence, infertility ) Body image (breast development, genital appearance, hirsutism, short stature ) Relationships (being in it, not being in it) Parenthood Improve treatment compliance *
18
19 Avoiding surgery with vaginal dilatation Vaginal Length (cm) CAIS Rokitansky Ismail et al Human Reproduction 2006
20 DSD- Early experiences of health care Secrecy Over exposure (e.g. photography, repeat intimate examinations, psychological testing) (De-)sexualisation Childhood hospitalisation (separation from family, loss of control, invasion of privacy, out of synch with peer groups )
21 DSD family experiences Parental handling of information relating to diagnosis and treatment Emotional distress in siblings Financial hardship as a result of some DSDs Difficulties in separation/transition
22 Assessing sexual difficulties gender identity gender(s) of preferred sexual partners body perceptions sexual experiences sexual and relationship aspirations knowledge of a range of sexual activities
23 Sex therapy Improving understanding of past and present influences on identified problem(s) Increasing knowledge of wide variations in male and female sexualities; de-centralizing binary ideas of sex. Increasing control over social and sexual situations Self permission to explore a range of sexual activities alone or partnered. Self permission not to pursue sexual activities where there is no barrier other than an absence of desire or even a wish to desire
24 Aims For DSD centres Building a mature team: Clear vision that everyone shares Genuine respect for each other s contributions Psychology not as stand-alone treatment Interdisciplinary working Working with support groups to develop goals
25 Fertility Ovulation Induction Surrogacy Adoption Psychology Gender awareness Infertility Sex Therapy Support Groups DSD Adults Defining need Catching Fallout! Error patrol Gynaecology Endocrinology Psychology Nurse Specialist Contact MDT Coordinator Dilator Therapy Surgery Paediatric Laparoscopic Urology Diagnostics Specialist Assays Steroid Chemistry Genetics
26 DSD Team at UCL Endocrinology Gerard Conway Gynaecology Sarah Creighton Psychology Lih-Mei Liao Fertility Melanie Davies Paediatrics Carline Brain Urology Dan Wood, Christopher Woodhouse Laparoscopic Surgeons Tom Kurzawinski, Alfred Cutner Molecular Genetics Gill Rumsby, John Achermann Steroid Biochemistry John Honour
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