Severe Hypospadias in an Infant Compromised by Twin-Twin Transfusion Syndrome

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 631-640-Pediatric Endocrinology Case Reports: Disorders of Sexual Differentiation
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-639
Min-Jye Chen*1, Fida F Bacha2, Jennifer E Dietrich3, David Roth4, Sheila Kaye Gunn5 and Lefkothea P Karaviti1
1Baylor College of Medicine, Houston, TX, 2Children's Nutrition Research Center, Houston, TX, 3Texas Childrens Hospital, 4Baylor College of Medicine/Texas Childrens Hospital, 5Baylor Coll of Med, Houston, TX
Background: Hypospadias is one of the most frequent congenital malformations in males, affecting approximately 2-8 per 1,000 live male births. Studies indicate a multifactorial basis for the condition, including hormonal, genetic, and environmental causes. 

Clinical case: An 8-month old healthy male infant presented to clinic for evaluation of severe penoscrotal hypospadias. The hypospadias was noted at birth, as urine came out of the scrotal area. The patient was a product of in vitro fertilization (IVF), was the donor twin in prenatally diagnosed twin-twin transfusion, and had intrauterine growth restriction (IUGR) with birth weight 1.4 kg (less than 3rd percentile for gestational age).  Family history was noncontributory; the twin brother was 2 kg at birth (30th percentile for gestational age) and did not have hypospadias. Physical exam was only significant for scrotal hypospadias with chordee and bifid scrotum. Initial workup did not reveal a genetic or biochemical etiology of hypospadias: karyotype was 46 XY, Inhibin B was 156 pg/mL (age appropriate norms not available), and AMH was 263 ng/mL (normal 109-262 ng/mL). The patient was treated with IM testosterone monthly for 3 months to facilitate penile growth in anticipation of hypospadias repair. His repair was performed at 13 months of age.

 Discussion: Based on a review of the literature, we found no previous reports of twin-twin transfusion associated with hypospadias. In our case, the patient’s identical twin brother was the recipient twin and did not have hypospadias, making genetic and exogenous environmental causes less likely.  However, twin-twin transfusion may contribute to the development of hypospadias through IUGR. IUGR has been associated with the development of many metabolic derangements as well as hypospadias. Further research is needed to clarify the underlying mechanisms. It is unclear how in vitro fertilization can contribute to hypospadias and is worth investigating further. Understanding how IUGR or IVF affect penile growth and development may lead to a better understanding of possible early interventions.

Nothing to Disclose: MJC, FFB, JED, DR, SKG, LPK

*Please take note of The Endocrine Society's News Embargo Policy at