Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation

[摘要] Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH). We present a case of a young lady born to consanguineous parents who was found to have IHH due to a rare gene mutation. Learning points: The genetic basis of a majority of cases of IHH remains unknown. IHH can have different clinical endocrine manifestations. Patients can present late to the healthcare service because of unawareness and stigmata associated with the clinical features. Family members of affected individuals can be affected to varying degrees.

[学科分类] 血液学