Analysis of the Etiological Diagnosis of 75 Cases of Primary Amenorrhea
- VernacularTitle:75例原发性闭经的病因诊断分析
- Author:
Pengfei QIN
1
;
Jie CHEN
;
Yanli SUN
Author Information
1. 南京医科大学附属妇产医院南京市妇幼保健院妇科内分泌科,江苏南京 210004
- Keywords:
Primary amenorrhea;
Etiologic diagnosis;
Mayer-rokitansky-küster-hauser syndrome;
Sex hor-mones;
Chromosomal karyotype
- From:
Journal of Practical Obstetrics and Gynecology
2024;40(10):811-815
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the etiology of primary amenorrhea,analyze its clinical features,and improve the level of clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the clinical data of 75 patients with primary amenorrhea who attended the gynecological endocrine clinic of Nanjing Women and Children's Healthcare Hospital from January 2020 to September 2022,and the etiology of their diagnosis was ana-lyzed.Results:aChromosomal karyotype analysis showed 14 cases(18.67％)of abnormal karyotypes,including 2 cases of autosomal abnormalities,7 cases of sex chromosome abnormalities,and 5 cases of sexual differentia-tion abnormalities.②According to reproductive hormones,there were 15 cases(20.00％)of hypogonadotropic a-menorrhea and 18 cases(24.00％)of hypergonadotropic amenorrhea.③By the location of the cause,utero-inferi-or genital tract amenorrhea was the most common in 23 cases(30.67％),including 20 cases of mayer-rokitan-sky-küster-hauser syndrome(MRKH syndrome)and 3 cases of androgen insensitivity syndrome(AIS).It was followed by ovarian amenorrhea in 18 cases(24.00％)including 6 cases of Turners syndrome,10 cases of 46,XX simple gonadal hypoplasia and 2 cases of 46,XY gonadal hypoplasia(Swyer syndrome);hypothalamic-pituitary amenorrhea in 17 cases(22.67％),including idiopathic hypogonadotropic hypogonadism(IHH)in 9 cases,Kall-mann s syndrome in 4 cases,and hyperprolactinemia in 4 cases;and also amenorrhea with hyperandrogenic mani-festations in 17 cases(22.67％),with a higher number of suspicious polycystic ovary syndrome in 16 cases.Con-clusions:Primary amenorrhea has a variety of etiologies and clinical features,and requires examination of sex hormones and pelvic ultrasound from the lower genital tract up to the central nervous system to find the site of the etiology and to optimize the diagnostic process;in the case of hypogonadotropic amenorrhea,chromosomal test is necessary.
