Departments of Pediatrics, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland.
Department of Pediatrics, Kymenlaakso Central Hospital, Kotka, Finland.
Eur J Endocrinol. 2021 May 4;184(6):R225-R242. doi: 10.1530/EJE-20-1487.
Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥ 15-year-old females with developed secondary sexual characteristics and normal growth or in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche 3 years after thelarche (start of breast development) or 5 years after thelarche, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and the patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.
青春期是从儿童期到成年期的过渡阶段，其特征是获得成人身高和身体成分、积累骨强度和获得第二性征、心理社会成熟和生殖能力。在女孩中，初潮是青春期的一个晚期标志。原发性闭经是指 15 岁以上具有发育完全的第二性征和正常生长的女性或 13 岁以上无青春期发育迹象的女性初潮缺失。此外，如果初潮发生在 10 岁之前，那么在乳晕发育（乳房发育开始）后 3 年或乳晕发育后 5 年仍无初潮，应考虑进行原发性闭经评估。下丘脑-垂体-卵巢轴的各种疾病可导致原发性闭经，伴有青春期发育延迟、停滞或正常。病因可分为引起促性腺激素低下性性腺功能减退症的下丘脑或垂体疾病、引起促性腺激素高分泌性性腺功能减退症的性腺疾病、其他内分泌腺疾病和先天性子宫阴道异常。本文从儿科内分泌学家和妇科医生的角度全面回顾了原发性闭经的病因、诊断和治疗。治疗目标取决于病因和患者；及时进行病因诊断，即使在没有可治愈治疗的情况下，也可能获得生育能力。
