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Case Report

Published: Apr 27, 2025 | DOI: 10.24911/ejmcr.9-1652

A rare case of primary amenorrhea with swyer syndrome : "A case report"

Authors: Ashwini H , Sujayendra S Kulkarni , Naveen Charntimath , Anil Satyaraddi , Suvarna Tapashetti

Article Info

Authors

Ashwini H

S Nijalingappa Medical College and HSK Hospital, Navanagar, Bagalkote, Karnataka, India

ORCID

Sujayendra S Kulkarni

S Nijalingappa Medical College and HSK Hospital, Navanagar, Bagalkote, Karnataka, India

ORCID

Naveen Charntimath

Department of Endocrinology, S Nijalingappa Medical College and HSK Hospital and RC, Bagalkot, India

Anil Satyaraddi

Department of Endocrinology, S Nijalingappa Medical College and HSK Hospital and RC, Bagalkot, India

Suvarna Tapashetti

Kuntoji Maternity Hospital, Bagalkot, India

Publication History

Received: January 02, 2025

Accepted: April 04, 2025

Published: April 27, 2025

Abstract

Background: Swyer syndrome is seen in females with primary amenorrhea, unambiguous female genital appearance, normal vagina, and cervix but XY karyotype. It is characterized by bilateral streaky ovaries, hypoplastic infantile uterus, normally developed Mullerian structures, and hypergonadotropic hypogonadism. Affected individuals usually have a uterus and fallopian tubes, but their gonads are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue.
Case Presentation: A 17-year-old girl presented with primary amenorrhea visited our clinic. Family history and the age at diagnosis were collected. After obtaining consent, a physical examination for secondary sexual characteristics was done. Initial laboratory tests like Thyroid profile, FSH, LH, and Estradiol for evaluating primary amenorrhea were investigated. Radio diagnosis to find uterine and ovaries size was done. Karyotyping and Fluorescent In situ Hybridization (FISH) tests were done to find the genotype of the girl. Parents of the affected child have a history of second-degree consanguineous marriage. The child’s height was 167 cm and weighed 44 kg. On examination, breasts were in tanner stage 2, with absent axillary hair but well-developed pubic hair. External genitalia was of the female type, per vaginal examination was normal and the cervix was small.
Conclusion: The purpose of reporting this case is to have a rare clinical condition and to know the importance of chromosome pattern XY female for appropriate management as there is a high chance of gonadal malignancies if undetected. Also, to counsel about fertility-related problems. importance of chromosome pattern XY female for appropriate management as there is a high chance of gonadal malignancies if undetected.

Keywords: amenorrhea, Swyer syndrome, hypogonadism, 46XY female, Case report.

Pubmed Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti. A rare case of primary amenorrhea with swyer syndrome : "A case report". EJMCR. 2025; 27 (April 2025): -. doi:10.24911/ejmcr.9-1652

Web Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti. A rare case of primary amenorrhea with swyer syndrome : "A case report". https://www.ejmcr.com/articles/1652 [Access: May 02, 2025]. doi:10.24911/ejmcr.9-1652

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti. A rare case of primary amenorrhea with swyer syndrome : "A case report". EJMCR. (2025), [cited May 02, 2025]; 27 (April 2025): -. doi:10.24911/ejmcr.9-1652

Harvard Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti (2025) A rare case of primary amenorrhea with swyer syndrome : "A case report". EJMCR, 27 (April 2025): -. doi:10.24911/ejmcr.9-1652

Chicago Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti. "A rare case of primary amenorrhea with swyer syndrome : "A case report"." 27 (2025), -. doi:10.24911/ejmcr.9-1652

MLA (The Modern Language Association) Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti. "A rare case of primary amenorrhea with swyer syndrome : "A case report"." 27.April 2025 (2025), -. Print. doi:10.24911/ejmcr.9-1652

APA (American Psychological Association) Style

Ashwini H, Sujayendra S Kulkarni, Naveen Charntimath, Anil Satyaraddi, Suvarna Tapashetti (2025) A rare case of primary amenorrhea with swyer syndrome : "A case report". , 27 (April 2025), -. doi:10.24911/ejmcr.9-1652