Hypogonadotrophic hypogonadism in infants with congenital hypopituitarism: a challenge to diagnose at an early stage

BRASLAVSKY, D.; GRINSPON, R.; BALLERINI, M.G.; BEDEACRRÁS, P.; LORETI, N.; BASTIDA, M.G.; ROPELATO, M.G.; KESELMAN, A.; CAMPO, S.; REY, R.; BERGADÁ, I.

Hormone Research in paediatrics

Karger

Lugar: Bazel; Año: 2015 vol. 84 p. 289 - 297

1663-2818

Background: Combinedpituitary hormone deficiency (CPHD) has a variable spectrum of pituitary gland affectation. The postnatal gonadotrophic surge is a useful period for exploring the gonadotrophic axis in order to assess the presence of congenital hypogonadotrophic hypogonadism (CHH). Aim: to explore the hypothalamic-pituitary-gonadal axis function in the postnatal gonadotrophic surge to early diagnose CHH in newborns or infants with suspected CPHD. Subjects and Methods: Boys under 6 months (n=27) and girls under 24 months of age (n=19) with suspected hypopituitarism were included. Serum concentrations of LH, FSH, testosterone, inhibin-B, antimüllerian hormone (AMH) and oestradiol were measured and male external genitalia were characterised either normal or abnormal (micropenis, microorchidism and/or cryptorchidism).Results: CPHD was confirmed in 36 out of 46 patients. Low LH and testosterone levels were found in 66% of the hypopituitary males, in significant association with the presence of abnormal external genitalia. This abnormality had a positive predictive value of having CHH of 93%. No significant association was observed between serum FSH, AMH and iInhibin-B and their external genitalia. Conclusions: In newborns or infantsboys with CPHD, LH and testosterone concentrations determined throughout the postnatal gonadotrophic surge together with a detailed evaluation of the external genital phenotype facilitates the diagnosis of CHH at an early stage.