Work

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review

Year: 2025

Type: article

Abstract: BACKGROUND: Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics. However, in rare cases, patients may exhibit atypical features such as spontaneous breast development and menstruation. CASE PRESENTATION: This report details the case of a 13.5-year-old female with a 46, XY karyotype, fully developed secondary sexual characteristics, and unilateral gonadoblastoma. The primary clinical symptoms included generalized hirsutism and secondary amenorrhea, occurring ten months after experiencing two menstrual periods. Physical examination revealed a phenotypic female of normal height with apparently normal external genitalia but clitoromegaly. Breast and pubic hair development were at Tanner stage five. Noteworthy features included generalized hirsutism and a deep voice. Initial laboratory investigations showed follicle-stimulating hormone (FSH) at 0.39 mIU/mL, luteinizing hormone (LH) at 0.43 mIU/mL, testosterone at 1.96 ng/mL, and estradiol at 79.54 pg/mL. An abdominal computed tomography (CT) scan detected a 12 × 10 × 10.5 cm calcified mass on the left side of the pelvis, originating from the ovaries. Surgical excision of the mass, along with a left salpingo-oophorectomy, was performed. Histopathology confirmed the mass as a gonadoblastoma. Chromosomal analysis confirmed the diagnosis of XY pure gonadal dysgenesis (Swyer syndrome). CONCLUSION: This case highlights the importance of comprehensive genetic testing in females presenting with amenorrhea despite fully developed secondary sexual characteristics.

Source: BMC Pediatrics

DOI: 10.1186/s12887-025-06399-6

Authors: Alireza Sadeghi, Romina Rezaei, Zahra Razavi, Amir Mohammad Salehi, Arash Dehghan

Institution: Hamedan University of Medical Sciences

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090