ECE2022 Eposter Presentations Reproductive and Developmental Endocrinology (93 abstracts)
Primary amenorrhea revealing testicular regression syndrome in two sisters
Wiem Saafi , Taieb Ach , Asma Ben Abdelkrim , Ghada Saad , Hamza Elfekih , Yosra Hasni , Maha Kacem , Molka Chaieb , Amel Maaroufi & Koussay Ach
Farhat Hached University Hospital, Endocrinolgy, Sousse, Tunisia
Introduction: Disorders of sex development represent a rare group of congenital disorders causing discord between the phenotypical and genotypical sex. We present the case of two female patients in whom we discovered a sex development disorder when they consulted for amenorrhea.
Case report: Two sisters of 21 and 25 years old had an endocrinological consult for primary amenorrhea. They were conceived from a consanguineous marriage and had no particular medical history. We didn’t notice any intellectual retardation or dysmorphic syndrome. Physical examination found a high of 1.90 meters for both sisters and normal blood pressure. The Tanner stage was S3P2A2 with normal feminine external genital organs. No signs of hyperandrogenism were noted. Hormonal exploration revealed hypergonadotropic hypogonadism with normal testosterone levels and undetected estradiol levels in both cases. The patients had the same karyotype:46, XY, (SRY+). Pelvic MRI discovered the absence of gonads, uterus, and fallopian tubes. No adrenal or renal abnormalities were found. We retained the diagnosis of testicular regression syndrome. Hormonal replacement by estroprogestative was initiated in both sisters.
Conclusion: Embryonic testicular regression syndrome is a rare disorder of sex differentiation. The phenotype of patients with this disorder is variable with different degrees of masculinization. The phenotype depends on the extent and timing of the intrauterine accident concerning sexual development.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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