Endocrine Abstracts

JOINT4028

Introduction: Disorders of sex development (DSD) encompass a wide range of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. Mixed gonadal dysgenesis (MGD) is a rare form of DSD characterized by a mosaic karyotype and asymmetrical gonadal development. We report a case of a neonate diagnosed with MGD, detailing the clinical, hormonal, and imaging findings, as well as the management approach and follow-up.

Methods: We present the case of a neonate admitted to the Department of Pediatrics A at Hedi Chaker University Hospital for evaluation of a suspected disorder of sex development.

Results: A 3-day-old neonate was admitted for DSD evaluation. The pregnancy was uneventful. The neonate was born at term with a normal adaptation to extra-uterine life. Birth parameters were within normal limits: weight 3530g, height 49cm, and head circumference 34cm. There was no parental consanguinity. Examination of the external genitalia revealed pseudo-scrotal genital pads with transverse striation and a single orifice at the base of the bud. No palpable gonads were detected, and there were no signs of hyperpigmentation. Hormonal assays showed normal cortisol levels and normal 17-OHP, anti-mullerian hormone (AMH) was 17.3 ng/ml (normal range for males: 16.8-138) and Blood testosterone was 2.46 ng/ml. Blood karyotype revealed mixed gonadal dysgenesis: 45X [26]/46XY [7]. An abdominopelvic ultrasound revealed the presence of a uterus. Pelvic MRI confirmed a uterine structure without ovarian structures, an inguinal right testicle with an associated vaginal hydrocele, and a smaller left testicle. The biopsy of the gonads revealed the presence of testicular tissue. During follow-up, the patient demonstrated normal growth and psychomotor development. Management included feminizing urogenital surgery with endoscopic revision for bilateral orchiectomy, as the parents opted for a female gender assignment.

Conclusion: This case highlights the complexity of diagnosing and managing mixed gonadal dysgenesis. Early recognition through clinical, hormonal, and imaging evaluations is essential for appropriate gender assignment and surgical management. A multidisciplinary approach, including endocrinologists, pediatric surgeons, geneticists, and psychologists, is crucial to ensure the best long-term outcomes for affected individuals.