17-?- HYDROXYSTEROID DEHYDROGENASE TYPE 3 DEFICIENCY: CASE REPORT OF A RARE CAUSE OF 46, XY FEMALE PHENOTYPE IN ADULTHOOD

Dr. SANDEEP HAMBARDE; Dr. ASHWINI HAMBARDE; Dr. AMOL BUKAN; Dr. THAVENDRA DIHARE

Volume : IX, Issue : VI, June - 2020

17-?- HYDROXYSTEROID DEHYDROGENASE TYPE 3 DEFICIENCY: CASE REPORT OF A RARE CAUSE OF 46, XY FEMALE PHENOTYPE IN ADULTHOOD

Dr. Sandeep Hambarde, Dr. Ashwini Hambarde, Dr. Amol Bukan, Dr. Thavendra Dihare

Abstract :

Objective: To review a case of disorder of sexual differentiation (DSD) in an adult female patient and the potential challenges and complexity in diagnosing and managing these conditions. Methods: We review a case of a 34 year-old 46, XY (+SRY) female presenting with primary amenorrhea, hirsutism and infertility with clinicalcourse leading to her suspected and confirmed diagnosis. Results: A 34-year-old 46, XY (+SRY) female presented with primary infertility after 12 years of marriage. at age21. Based on her clinical presentation and investigations, she was found to have 17-β-HSD3 deficiency due to a homozygous mutation in the HSD17B3 gene. Molecular confirmation of her condition, provided her a more accurate and individualized treatment plan as well as personal risk assessment for her family members. Conclusion:17-β-HSD3 deficiency is reported to be a rare cause of female 46, XY DSD but may be overlooked in adult patients due to clinical similarities with androgen insensitivity and lack of genetic testing in suspected cases. It is essential to have a multidisciplinary team to help confirm the diagnosis and provide comprehensive care to affected individuals