Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting

• Published in: Annals of medicine and surgery 2022-10, Vol.82, p.104577-104577, Article 104577
• Main Authors: Putri Susilo, Artha Falentin, Tjandraprawira, Kevin Dominique, Bayu, Patrick, Bayuaji, Hartanto
• Format: Article
• Language: English
• Subjects: 5-α reductase deficiency; Case Series; Disorders of sex development (DSD)
• ISSN: 2049-0801; 2049-0801
• DOI: 10.1016/j.amsu.2022.104577

Disorders of Sexual Development (DSD) is a rare autosomal recessive genetic condition significantly affecting patients' lives in various aspects, particularly psychosocially. Type 2 5-α reductase is a cause of DSD 46,XY. It is rare to find multiple DSDs in the same family. Patients may present with amenorrhea and ambiguous genitalia. This case report is aimed to highlight the genetic aspects of the disease, the challenges to diagnostics and the various management options for the patients. Case series of three siblings with DSD 46, XY with relevant discussion. Three sisters, aged nineteen, seventeen, and fifteen years old came with an identical complaint of late menarche. Their physical examinations revealed elementary breast development and little axillary hair. The external genitals consisted of vulva, major and minor labia. Clitoromegaly was present with short (20). Karyotype was 46,XY. Diagnoses of DSD 46, XY due to type 2 5-α reductase deficiency were established. Patient 1 chose female as the gender of choice whilst patients 2 and 3 chose male. All patients are due for corrective surgery along with psychotherapy and psychoeducation. DSD 46, XY due to type 2 5-α reductase deficiency is a rare autosomal recessive genetic disorder requiring comprehensive diagnostics and holistic management to improve patient quality of life. •Disorder of sexual development (46,XY) due to type 2 5-α reductase deficiency is rare.•It requires a multidisciplinary team involving a battery of tests, imaging and genetic tests, e.g. karyotyping.•Informed consent and collaboration with other disciplines are pivotal for holistic management.