Early Evaluation of the Hypothalamic-Pituitary-Gonadal axis in patients with Congenital Pituitary Hormone Deficiency.

D¨¦BORA BRASLAVSKY; ROMINA P. GRINSPON; MAR¡§ªA G. BALLERINI; GABRIELA BASTIDA; PATRICIA BEDECARR¨¢S; MARIA G. ROPELATO; ANA KESELMAN; RODOLFO A. REY; BERGADA IGNACIO

Costa do Sauipe, Bahia , Brazil

Congreso; XXI Annual Meeting of the Latin American Society for Pediatric Endocrinology (SLEP).; 2010

Latin American Society for Pediatric Endocrinology (SLEP).

Postnatal gonadotropic surge is a window of opportunity to establish the diagnosis of hypogonadotropic hypogonadism (HH) in patients with congenital pituitary hormone deficiency (CPHD). To describe genital phenotype and serum concentrations of gonadotropins, testosterone (T) and antim¨¹llerian hormone (AMH) in CH. 23 patients were included: 14 males between 1-6 months and 9 females between 1-20 months. 52% had ¡Ý3 pituitary hormone deficiencies, 26% two and 22% one, excluding gonadotropic axis. Abnormal genital phenotype in males defined as with micropenis, cryptorchidism and/or microorchidism. Abnormal serum hormone levels in males: LH<0.8IU/l, FSH<0.45IU/l, T<30ng/dl, AMH<-2SD and in girls FSH<1.5 IU/l.  Twelve males had abnormal genital phenotype, T and LH. AMH and FSH were abnormal in 84% and 58% respectively Two with normal phenotype had normal hormone levels, except one with low AMH. In females, FSH was abnormal in 45%. Diagnosis of HH in males with CPHD raised by the presence of abnormal genital phenotype is supported by low LH, T and AMH. In females, definite diagnosis of HH needs additional studies. Good clinical evaluation with assessment of serum pituitary and gonadal hormones helps testing the diagnosis of HH in CPHD, hence plausible of hormonal treatment at this critical period of development.