Impaired Pulsatile Secretion of LHRH
In absence of anosmia, the Kal gene is not involved, as demonstrated by Quinton et al.. However, familial histories have suggested the role of two different autosomal genes,…

Primary gonadotropin deficiency is associated with very low levels of FSH and LH, concordant bone age, normal stature -  unless multiple pituitary deficiencies including GH are associated -  and normal karyotype. Response to LHRH…

-  Histiocytosis X (Hans-Schüller-Christian disease) is characterized by multiple organ infiltration (skin, bone, viscera) by histiocytic cells. Infiltration of the pituitary stalk and hypothalamus is possible with diabetes insipidus and…

Prepubertal girls treated with radiation therapy or chemotherapy may present gonadal failure with delayed puberty or primary or secondary amenorrhea.

In cases of abdominal or pelvic radiotherapy, the ovaries must be surgically removed…

Organic Direct Gonadotropin Deficiency
To establish etiological diagnosis, complete medical history and clinical exam are associated with systematic computed tomography (CT) or magnetic resonance imaging (MRI) scans of the hypothalamic and pituitary areas, as…

Ovarian dysgenesis with a normal 46,XX karyotype is defined by reduced or altered ovaries, a female phenotype, and normal stature with no turnerian malformations. Diagnosis is suggested by primitive hypergonadotropic hypogonadism with…

Actually, after this clinical exam and these simple complementary investigations, the physician often has a presumptive diagnosis. The easiest case is when FSH is elevated (hypergonadotropic hypogonadism). In this case the work-up will…