Stump the Professors. Professor Panelists 4/13/2015. Challenger. Kylie Fowler, MD
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1 4/13/2015 Stump the Professors Professor Panelists Cynthia Holland-Hall MD, MPH Mary Anne Jamieson, MD Julie Strickland, MD, MPH Challenger Kylie Fowler, MD Medical degree: University of Washington School of Medicine Residency :Third year resident at the University of New Mexico 1
2 Challenger Advisor Nancy Sokkary, MD Medical degree: University of New Mexico School of Medicine Residency: Kaiser Permanente Oakland Fellowship in Pediatric and Adolescent Gynecology: Baylor College of Medicine Disclosures No conflicts of interest or disclosures Chief Complaint: Delayed Puberty Patient presented for evaluation at age 14 with no genital hair and no breast development. She had not had any vaginal bleeding consistent with a period and no pelvic pain or cramping. 2
3 Past Medical History: Renal failure diagnosed at age 12, receiving home peritoneal dialysis and on the renal transplant list History of prior bilateral inguinal hernia repair Family History: 10 year old sister has already achieved menarche Mother hypothyroidism and hypercholesterolemia Paternal aunt lupus Stump the professors Case Questions or comments from the panelists Physical Exam T: 37.2 HR 88 BP 129/65 RR 18 O2 sat 98%RA Ht 162cm Wt 53.5kg BMI 20 Tanner Stage I- II breast and genital development Normal external female genitalia, hymen was patent and intact No evidence of hirsuwsm, acne, clitoromegaly, or thyromegaly Social History PaWent is in 8 th grade where she earns A s and B s and enjoys painwng and music Lives with her mom, dad, and siblings PaWent is not yet sexually acwve 3
4 4/13/2015 Stump the professors Case Questions or comments from the panelists Laboratory Data TSH 1.8 UIU/mL LH 6.4 miu/ml FSH miu/ml Prolactin ng/ml Estrogen 7.5 pg/ml MRI Pelvis: Uterus present within the pelvis, unremarkable in appearance. Possible, though not definitive, ovarian tissue present bilaterally. Moderate to large volume of fluid in the pelvis secondary to peritoneal dialysis MRI Head: Normal non-contrasted MRI of the head. The pituitary gland is not enlarged. 4
5 Additional Studies: Karyotype 46XY FISH SRY + Stump the professors Case Questions or comments from the panelists Differential Diagnosis for Hypergonadotropic Hypogonadism: XY Pure Gonadal dysgenesis Premature ovarian insufficiency Turner Syndrome Radiation/Chemotherapy 17-alpha hydroxylase deficiency Autoimmune oophoritis LH and FSH receptor defects 5
6 Diagnosis Frasier Syndrome Rare genetic syndrome characterized by n steroid-resistant nephrotic syndrome n 46XY gonadal dysgenesis n WT1 mutation n High risk of gonadoblastoma Reported risk of gonadal tumor ranges from 48-67% Hyperprolactinemia Prolactin is renally eliminated in the renal tubules Additional Procedures: Renal transplant Bilateral gonadectomy n Pathology revealed bilateral gonadoblastoma n Tumor confined to the gonads Additional Studies: WT1 mutation: c g>a Treatment: Gynecologic n started on hormone replacement therapy, now with cycling progesterone n Tanner stage IV breast development Renal n Creatinine and BP stable n No evidence of kidney transplant rejection 6
7 4/13/2015 Treatment Oncology n Negative CT and tumor markers Endocrine n Normalized prolactin Uterus measures 6.1 x 3.6 x 2.4cm Outcome Patient is doing well, continuing in school She has started modeling for local businesses around Albuquerque Recently started dating her first boyfriend 7
8 Comments from Panelists Take home points: Frasier Syndrome Characterized by renal disease and XY gonadal dysgenesis Majority of patients present with renal disease but diagnosis is not made until delayed puberty 67% of patients had gonadoblastoma at time of gonadectomy References Chan WKY, To KF, But WM, Lee KW. Frasier Syndrome: a rare cause of delayed puberty. Hong Kong Med J 2006;12:3 Ezaki J, Kazunori H, Asano T. Gonadal tumor in Frasier Syndrome: a review and classifica:on. Cancer Prev Res. Published online Jan 26, Sanfilippo JS, Lara- Torre E, Edmonds DK, Templeman C. Clinical and Adolescent Gynecology. CRC Press December 2008: 54-56, Joki- Erkkila MM, Karikoski R, Rantala I, Lenko HL, Visakorpi T, HeinonenPK. Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. J Pediatr Adolesc Gynecol 2002;15: Rondeau G, Merouani A, Phan V, Deal C, Robitaille P. Serum prolactin levels in a uremic child: effects of bilateral nephrectomy and kidney transplantation. NDT Plus 4: July Ijaiya K, Roth B, Schwenk A. Serum prolac:n levels in renal insufficiency in children. Acta Paediatr Scand 69:
9 NASPAG would like to thank the Expert Panel and the Resident/Fellow Challengers 9
Disclosure. Session Objectives. I have no actual or potential conflict of interest in relation to this program/presentation.
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