Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY)

• Published in: Journal of obstetrics and gynaecology of India Vol. 71; no. 4; pp. 399 - 405
• Main Authors: Das, Darvin V., Jabbar, P. K.
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01.08.2021
• Subjects: Gynecology; Medicine; Medicine & Public Health; Obstetrics/Perinatology/Midwifery; Original; Original Article; Mixed gonadal dysgenesis; Reproductive characteristics; Clinical profile
• ISSN: 0971-9202; 0975-6434
• DOI: 10.1007/s13224-021-01448-3

Introduction 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. Materials and Method 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. Results 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. Conclusion 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.