Endocrine Abstracts

JOINT2691

Introduction: Disorders of sex development (DSDs) are rare conditions involving atypical chromosomal, gonadal, or anatomical sex development. Among these, 46XY DSD is particularly significant due to its association with gonadal dysgenesis and an elevated risk of gonadal malignancy. Early diagnosis and management are critical to prevent complications, but challenges arise when additional congenital anomalies or delayed presentations are present.

Objective: We present a rare case of a child with a 46XY karyotype, presented with a disorder of sex development (DSD). This case highlights the complexity of managing a pediatric patient with 46XY DSD and developmental anomalies.

Case description: A 10 years old female patient, was referred to the endocrinology department for evaluation of short stature. A neurologist first evaluated her at 7–8 months of age following multiple consultations for mild mental retardation, developmental delays, and dysmorphic features, including a flat nose, low-set eyebrows, and small, low-set earlobes. The brain MRI at the time showed no abnormalities. Dysmorphic features and Turner syndrome-like dysembryogenesis symptoms prompted genetic evaluation. Karyotyping revealed a 46XY genotype, confirming the diagnosis of 46XY DSD. Further investigations revealed bifurcated kidneys, left kidney pyelectasis, and anomalies of the coronary vessels. Upon admission to the endocrinology department, a physical examination revealed hypertelorism of the nipples, an enlarged clitoris, a narrow vagina, and hypoplastic internal sex organs. Laboratory investigations demonstrated significantly reduced anti-Müllerian hormone (AMH) levels at 0.012 ng/ml and testosterone at 2.5 ng/dl (both below the normal range). IGF-1 was 68.2 ng/ml (IGF-1 SDS: -2.38), with a bone age of 6 years, reflecting delayed skeletal development. The hCG stimulation test results showed no increase in testosterone levels. Given the high risk of gonadal malignancy associated with 46XY DSD, diagnostic laparoscopy and gonadectomy were planned but postponed due to asymptomatic leukocyturia detected during preoperative testing. The patient now remains under close monitoring and is preparing for the surgery. Considering the presence of gonadal dysgenesis, growth hormone treatment is planned to begin after gonadectomy.

Conclusions: This case underscores the critical importance of timely multidisciplinary evaluation in 46XY DSD patients. Early genetic testing and endocrinological referral are essential for optimizing outcomes and preventing delays in diagnosis and management. This case also highlights the importance of vigilant monitoring for gonadal malignancy, necessitating timely surgical intervention when feasible as there is a high risk of gonadal malignancy.