Das Darvin V, Jabbar P K
Department of Endocrinology, Government Medical College, Near Ward 20, Thiruvananthapuram, Kerala 695541 India.
J Obstet Gynaecol India. 2021 Aug;71(4):399-405. doi: 10.1007/s13224-021-01448-3. Epub 2021 Mar 5.
Mixed gonadal dysgenesis (MGD) or 45,X/46,XY mosaicism is a sex chromosomal disorder of sexual development. We aim to characterize the clinical and reproductive features of 45X/46 XY attending tertiary care center in Kerala.
Retrospective review of clinical records which include clinical presentation, hormonal profile, cytogenetics, psychosexual assessment, and histopathology of gonadectomy specimen of ten cases of 45X/46 XY mosaicism who attended Endocrinology/ OBG out patient department from 2008 to 2020.
The mean ages of all the cases were 12 ± 3.79 years (± 2 SD). Short stature was universally seen. Virilisation was the most common manifestation (80%) followed by delayed puberty (20%). Autoimmune thyroid disease was seen in 40% of cases. We noticed a delayed presentation in our clinical study. 45X/46 XY subjects who wished to continue as female underwent gonadectomy and were feminized with hormone replacement therapy. Male 45X/46 XY who retained their undescended testis is planned for periodic surveillance for malignancy.
45X/46 XY may present like Turner's syndrome in clinical practice. Early counseling and gender assignment by a panel of specialists are crucial. Delayed presentation is less commonly encountered now a day and may pose a clinical challenge. Management in 45X/46 XY is multi-disciplinary which includes Turner's like surveillance, proper sex assignment, timely genital reconstruction surgeries, gonadectomy, gonadal monitoring, and hormonal replacement therapy is needed.
混合性性腺发育不全（MGD）或45,X/46,XY嵌合体是一种性发育的性染色体疾病。我们旨在描述喀拉拉邦一家三级医疗中心就诊的45X/46 XY患者的临床和生殖特征。
回顾性分析2008年至2020年在内分泌科/妇产科门诊就诊的10例45X/46 XY嵌合体患者的临床记录，包括临床表现、激素水平、细胞遗传学、心理性别评估以及性腺切除术标本的组织病理学。
所有病例的平均年龄为12±3.79岁（±2标准差）。普遍存在身材矮小。男性化是最常见的表现（80%），其次是青春期延迟（20%）。40%的病例患有自身免疫性甲状腺疾病。我们在临床研究中注意到就诊延迟。希望继续以女性身份生活的45X/46 XY患者接受了性腺切除术，并通过激素替代疗法进行女性化治疗。保留未降睾丸的男性45X/46 XY患者计划定期进行恶性肿瘤监测。
在临床实践中，45X/46 XY可能表现得像特纳综合征。由专家小组进行早期咨询和性别分配至关重要。如今就诊延迟较少见，但可能带来临床挑战。45X/46 XY的管理是多学科的，包括类似特纳综合征的监测、适当的性别分配、及时的生殖器重建手术、性腺切除术、性腺监测，并且需要激素替代疗法。
