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

DÉBORA BRASLAVSKY; ROMINA P. GRINSPON; MAR¨ªA G. BALLERINI; GABRIELA BASTIDA; PATRICIA BEDECARRÁS; MARIA G. ROPELATO; ANA KESELMAN; RODOLFO A. REY; BERGADA IGNACIO

Praga, República Checa

Congreso; 49th Annual Meeting of the European Society for Paediatric Endocrinology; 2010

European Society for Paediatric Endocrinology

The postnatal gonadotropic surge is a window of opportunity crucial to establish the diagnosis of hypogonadotropic hypogonadism (HH) in patients with congenital hypopituitarism (CH). We aimed to describe the genital phenotype and serum concentrations of gonadotropins, testosterone (T), and antimüllerian hormone (AMH) in patients with CH. Twenty-three patients (14 males) were included: 52% had 3 or more pituitary hormone deficiencies, 26 % had two deficiencies and 22% had one deficiency, not considering the gonadotropic axis. In males, genital phenotype was defined as abnormal when micropenis (< 2.5 cm), cryptorchidism and/or microorchidism (testicular volume < 1 ml) were present. Serum hormone levels were defined as abnormal in males when LH < 0.8 IU/l, FSH < 0.45 IU/l, T < 30 ng/dl, and AMH < - 2 SD for age, and in girls when FSH < 1.5 IU/l. Males were studied between  1 to 6 months and females between 1 to 20 months. Twelve males had an abnormal genital phenotype, T and LH levels, whereas AMH and FSH were abnormal in 84 % and 58 %, respectively. Two infants with normal genital phenotype had normal hormone levels, except one with low AMH. In females , FSH was abnormal in 45 % of the cases. The diagnosis of HH in males with CH raised by the presence of an abnormal genital phenotype is supported by detecting low levels of serum LH, T and AMH. In absence of clinical signs of HH in females , we found  abnormal FSH levels in approximately half of them. However, a definitive diagnosis of HH probably needs additional studies. In summary a good clinical evaluation with the assessment of serum pituitary and gonadal hormones helps testing the diagnosis of HH in patients with CH. Those patients would be plausible of hormonal treatment at this critical period of development