Vasundhera Chauhan, Jyotsna Viveka P, Kandasamy Devasenathipathy, Gupta Nandita
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
Department of Radiology, All India Institute of Medical Sciences, New Delhi, India.
Indian J Endocrinol Metab. 2016 May-Jun;20(3):300-7. doi: 10.4103/2230-8210.179999.
46 XY disorders of sexual development (DSD) cover a wide spectrum of phenotypes ranging from unambiguous female genitalia to ambiguous male genitalia with hypospadias or dysgenetic gonads. Management of these patients depends on the cause of DSD, degree of feminization, age at presentation, and gender orientation. The aim of this study was to evaluate the presentation and management of patients with 46XY DSD at our center.
All new and old patients of 46XY DSD attending the endocrine OPD in a period of 16 months were included in this study. Clinical, cytogenetic, hormonal, and radiological evaluation were done to identify the cause of DSD.
Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial gonadal dysgenesis, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5α reductase deficiency). In three patients, a definitive diagnosis could not be made.
Management of patients with DSD depends on etiology, gender assignment, gender orientation, hormonal treatment, genital surgery, and consequent psychosocial implications. Due to the overlapping clinical and biochemical parameters in different subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic studies with long-term follow-up are required for an accurate diagnosis.
46，XY性发育障碍（DSD）涵盖了广泛的表型范围，从明确的女性生殖器到伴有尿道下裂或性腺发育不全的不明确男性生殖器。这些患者的治疗取决于DSD的病因、女性化程度、就诊年龄和性别取向。本研究的目的是评估我院46，XY DSD患者的临床表现及治疗情况。
本研究纳入了16个月内分泌门诊所有新老46，XY DSD患者。进行了临床、细胞遗传学、激素及影像学评估以确定DSD的病因。
19例患者中，8例被诊断为性腺发育障碍（1例完全性腺发育不全，4例部分性腺发育不全，2例先天性双侧无睾症，1例卵睾型DSD），8例为雄激素合成及作用障碍（1例完全雄激素不敏感综合征[AIS]，3例部分AIS，4例5α还原酶缺乏）。3例患者未能明确诊断。
DSD患者的治疗取决于病因、性别指定、性别取向、激素治疗、生殖器手术以及随之而来的社会心理影响。由于不同亚型DSD的临床和生化参数存在重叠，某些情况下只能做出初步病因诊断。需要进行基因研究并长期随访以获得准确诊断。
