一名原发性闭经且核型为46XY的女性患者出现完全性性腺发育不全的罕见病例。
Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype.
作者信息
Monolov Nurbek, Nurbekova Ulbolsun, Mamytova Elmira, Unusov Abdurashid, Osmonova Meerim, Makambaeva Meerim, Vityala Yethindra, Tagaev Tugolbai
机构信息
Department of Clinical and Morphological Disciplines Salymbekov University Bishkek Kyrgyzstan.
Inpatient Department URFA Center of Radiology Bishkek Kyrgyzstan.
出版信息
Clin Case Rep. 2024 Aug 15;12(8):e9318. doi: 10.1002/ccr3.9318. eCollection 2024 Aug.
KEY CLINICAL MESSAGE
A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasizing their value in this context.
ABSTRACT
A 16-year-old girl with absent menstruation and short stature. Further examination revealed constitutional stunting and primary amenorrhea. Karyotyping revealed a 46, XY chromosomal abnormality, whereas pelvic ultrasonography showed uterine hypoplasia and a unicornuate uterus with a rudimentary horn. After 11 months of therapy, she experienced menarche and improved secondary sexual characteristics.
关键临床信息
对于原发性闭经和身材矮小的患者，全面的诊断方法至关重要。染色体核型分析和影像学检查有助于发现隐藏的染色体异常和解剖差异，凸显了它们在此情况下的价值。
摘要
一名16岁女孩，月经未至且身材矮小。进一步检查发现体质性发育迟缓及原发性闭经。染色体核型分析显示46，XY染色体异常，而盆腔超声检查显示子宫发育不全及单角子宫伴残角。经过11个月的治疗，她出现了月经初潮，第二性征也有所改善。
Zotero 插件