Persistent micropenis in young adult patients with undetermined 46,XY disorders of sex development (DSD) born small for gestation age (SGA)

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-635
Olivia Bomfim1, Paula Pires Nascimento*2, Rosana Barbosa Silva3, Berenice Bilharinho Mendonca4, Sorahia Domenice4 and Elaine Maria Frade Costa5
1Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil, 2Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil, São Paulo, Brazil, 3University of Sao Paulo, Sao Paulo, Brazil, 4Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, 5Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, Brazil
Undetermined 46,XY disorder of sex development is frequently associated with low birth weight. However, there are few studies regarding the outcome of these patients Aim: To evaluate retrospectively the penile length and testicular function of 5 SGA patients with undetermined 46,XY DSD in adulthood Patients and Methods: We conducted a observational follow-up study and data were obtained by medical records. Two of 5 SGA patients were born premature. The first evaluation was conducted at a median age of 3.34 years (0.5-9.7 yrs). In addition to proximal or medial hypospadias, cryptorchidism was found in 4 patients (unilateral n=2, bilateral n=2), microphallus in 3 of them (-2.5 SDS) and 2 patients had penile length between -2.5 and -1 SDS. hCG stimulated testosterone (T) levels as well as T/DHT ratio were within normal range in all patients. One of the patients who had microphallus was treated with testosterone at 2.5 years of age resulting in a penile length increase (from 1.7 to 3.5cm). All patients underwent reconstructive genital surgery in early childhood and were followed until after pubertal age (mean age of 18 yrs). Results: In all patients puberty occurred spontaneously and persistent micropenis (<-2.5 SDS) was observed in adulthood (mean penis size was 8.0±1.08cm), even in the patient treated with testosterone during childhood. In total, 5 patients the testosterone levels were within normal adult range (631.5±140.79 ng/dL; NV:271-965 ng/dL) as well as gonadotropin levels, except 1 patient with high FSH levels (15.3 IU/L; NV:<10.5 IU/L). Discussion Similarly to our patients, persistent micropenis has been described in men diagnosed with undetermined 46,XY DSD during childhood. On the other hand, the previously described testicular function failure was not confirmed in our study. Conclusions Persistent micropenis was observed in young adult patients with undetermined 46,XY DSD born SGA, despite of normal testicular function.

Nothing to Disclose: OB, PPN, RBS, BBM, SD, EMFC

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