Gonadal function in a large pedigree of patients with the IMAGe Syndrome

BRASLAVSKY, DEBORA; ANDREONE, LUZ; BEDECARRÁS, PATRICIA; REY RODOLFO; CAMPO, STELLA; BERGADA, IGNACIO

New York City, USA

Congreso; 8th Joint Meeting of the Lawson Wilkins Pediatric Endocrine Society (LWPES) / European Society for Pediatric Endocrinology (ESPE); 2009

The IMAGe Syndrome has recently been described in only a few patients. Although genital anomalies have been reported, no clear information about the clinical variability and their gonadal function within these patients has yet been described. Herein we report results of the clinical and gonadal function evaluations in 8 patients (5 boys) with the IMAGe syndrome from a large Argentine pedigree. Clinical characteristics were obtained from all the patients, while gonadal function were available from 5 boys and one girl (age ranges 21 days – 17 yr).  Serum LH and FSH were measured by IFMA whereas Inhibin B, Pro-a C and AMH were measured by ELISA. In males 3/5 had micropenis, 3/5 had cryptorchidism and 3/5 had microorchidism (testicular volume < 1 ml). No genital ambiguity was observed. Serum Inhibins B, Pro-áC and AMH were low or in the lowest 25th centile of reference values. Serum FSH was whitin normal range. Serum testosterone and LH were within normal levels in all prepubertal patients. The onset of puberty occurred at normal age in the only male in pubertal development. However, at Tanner genital stage 3, his testicular volume was small (2-3 ml each) and only reached 8 ml at the age of 17 yr (Tanner genital stage 5). Inhibin B was undetectable and FSH was 20,5 mUI/mlThe three girls had normal external genitalia. Gonadal function in the only girl studied showed normal serum gonadotropins and inhibins at 21 days of age. In summary, boys with the IMAGe syndrome had at least one clinical genital anomaly indicative of primary hypogonadism of late onset in fetal life. Testicular function showed a primary Sertoli cell dysfunction and apparently normal interstitial function (at least in the early infancy and in the only patient evaluated at puberty). In girls, external genitalia were normal, as could be expected. This does not completely rule out hypogonadism at a prepubertal age. More patients will need to be studied throughout puberty in order to: a) further characterize the anomalies of testicular function in  IMAGe patients and to evaluate up to what extent their fertility can be affected, and b) determine whether ovarian function is impaired.