Chelaghma N, Rajkanna J, Trotman J, Fuller G, Elsey T, Park S M, Oyibo S O
Department of Endocrinology, Peterborough City Hospital, Peterborough, UK.
East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK
Endocrinol Diabetes Metab Case Rep. 2018 Apr 17;2018. doi: 10.1530/EDM-18-0028. eCollection 2018.
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.
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.
低促性腺激素性性腺功能减退是由于垂体促性腺激素分泌受损或减少所致。在垂体或下丘脑无任何解剖学或功能性病变的情况下，低促性腺激素性性腺功能减退被称为特发性低促性腺激素性性腺功能减退（IHH）。我们报告一例出生于近亲结婚父母的年轻女性病例，该患者因罕见基因突变被发现患有IHH。
大多数IHH病例的遗传基础仍不清楚。IHH可有不同的临床内分泌表现。由于对临床特征缺乏认识和相关污名，患者可能就医较晚。受影响个体的家庭成员可能受到不同程度的影响。
