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特发性低促性腺激素性性腺功能减退症的诊疗进展
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Abstract:
特发性低促性腺激素性性腺功能减退症(Idiopathic hypogonadotropic hypogonadism, IHH)是一种罕见的先天性遗传疾病，它主要由于促性腺激素释放激素合成、分泌或作用障碍引起促性腺激素低下，进而导致青春期发育延迟或缺失和不孕不育。IHH具有明显的临床和遗传异质性，大多数病例为散发性，其余病例为家族性，即使在家族病例中，相同遗传缺陷的临床表型在受影响的家庭成员中也可能存在很大差异。鉴于该病发病率较低、临床表现多样，早期诊断和治疗该病对于患者正常性征的形成、生育能力的恢复以及健康性心理的形成至关重要。本文就IHH的病因、诊断和治疗作一综述，希望可协助临床医生更新对IHH患者的认识，对该疾病的早期诊断和治疗提供一定的帮助。
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital genetic disorder, which is mainly caused by the synthesis, secretion or action of gonadotropin-releasing hormone. Subsequently, it causes the low levels of gonadotropins and ultimately leads to delayed puberty and infertility. IHH is clinically and genetically heterogeneous. Most cases of IHH are sporadic and the rest are familial. Even in familial cases, the clinical phenotype of the same genetic defect can vary widely among affected family members. Given the low incidence and diverse clinical manifestations, early diagnosis and treatment of this disease are crucial for the formation of sexual characteristics, the recovery of fertility, and the formation of healthy sexual psychology. This article has reviewed the etiology, diagnosis and treatment of IHH, hoping to help clinicians update their understanding of IHH patients and providing some help for the early diagnosis and treatment of this disorder.
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