Un hypogonadisme hypogonadotrope congénital combiné révélé par une anomalie de la différentiation sexuelle

Congenital hypogonadotropic hypogonadism (CHH) is an insufficient production of sex hormones due to loss of hypothalamic–pituitary–gonadal axis control. it is referred to as combined deficiency when it is associated with impairment of other endocrine axes. Signs of congenital hypogonadotropic hypogonadism are micro penis, delayed puberty in adolescence and infertility in adulthood. Abnormal sex differentiation (DSD) or subvirilizations of the external genitalia (OGE) are an exceptional way to detect signs of this disease. Figures show a child born to consanguineous parents who only at the age of 13 years was accompanied by his parents with severe small size and sexual ambiguity. Patient interview showed the absence of anosmia and clinical examination objectified size or weight less than -4 standard deviations (A). OGE examination found DSD classified as Prader V, with a bud of 1 cm, vulviform appearance of scrotum, intrascrotal gonads measuring 1 cm (B) The karyotype was in favor of XY DSD. Pelvic ultrasound and genitography determined the internal male genitalia and urethra. The hormonal balance was in favor of a CHH associated with somatropin deficit; the other pituitary axes were normal. Hypothalamic-pituitary MRI was normal. The patient was treated with recombinant growth hormone, 3 treatment for micropenis and delayed androgen replacement until his bone age had reached 14 years in order to allow him to have a good growth. Evolution was very satisfactory with a follow-up period of 4 years (A,C).