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Endocrine Abstracts (2025) 110 EP1352 | DOI: 10.1530/endoabs.110.EP1352

1Hedi Chaker University Hospital, Endocrinology, Sfax, Tunisia


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Introduction: The long-term outcomes of adults living with disorders of sex development (DSD) remain poorly studied. This study aims to characterize the somatic and psychosocial features of an adult North African population with testicular DSD.

Methods: This was a cross-sectional descriptive study conducted at the DSD reference center in Sfax, Tunisia, including 30 adult patients (≥18 years old) of diverse North African origins diagnosed with testicular DSD. The study assessed sexual development, cardiometabolic profile, bone mineralization, and psychosocial outcomes.

Results: The mean patient age was 23.68±8.8 years. The most common diagnoses were steroidogenesis defects (38%) and gonadal dysgenesis (32%). The average follow-up duration was 8.2±4.7 years. All patients received hormone replacement therapy aligned with their assigned civil gender, resulting in appropriate sexual development (Tanner stage 4.15±1.14). Three cases of de novo hypertension and hypertriglyceridemia were identified. Glucose intolerance tests were negative among all patients. Bone demineralization was found in 9 out of 17 evaluated patients, predominantly and most severely among those with complete androgen insensitivity syndrome. All patients identified as cisgender with a binary heterosexual orientation. Access to mariage and sexual activity was reported only in patients over 30 years old without genital anomalies. The unemployment rate was high (70%).

Discussion: Genetic anomalies and hormone therapy contribute to an unfavorable metabolic and bone profile in testicular DSD. Contrary to literature reports, no cases of gender identity disorders or homosexuality were observed, likely due to socioreligious factors. Access to marital and sexual life was delayed and correlated with the absence of genital anomalies, reflecting feelings of shame and barriers to reproduction. Social integration also appeared to be impaired. These findings highlight the need for larger longitudinal studies for further validation.

Volume 110

Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course

European Society of Endocrinology 
European Society for Paediatric Endocrinology 

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