Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype

Key Clinical Message A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasizing their value in this context. A 16‐year‐old girl with abs...

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Bibliographic Details
Published in:	Clinical case reports Vol. 12; no. 8; pp. e9318 - n/a
Main Authors:	Monolov, Nurbek, Nurbekova, Ulbolsun, Mamytova, Elmira, Unusov, Abdurashid, Osmonova, Meerim, Makambaeva, Meerim, Vityala, Yethindra, Tagaev, Tugolbai
Format:	Journal Article
Language:	English
Published:	England John Wiley & Sons, Inc 01-08-2024 Wiley
Subjects:	Age Amenorrhea Congenital diseases Females Gender identity Genetic counseling Genetic disorders gonadal dysgenesis Hormone replacement therapy karyotype 46, XY Magnetic resonance imaging Menstruation Mutation Ovaries Patients primary amenorrhea Swyer syndrome Testes Thyroid gland Tumors Ultrasonic imaging uterine hypoplasia Uterus Y chromosomes primary amenorrhea karyotype 46, XY gonadal dysgenesis Swyer syndrome uterine hypoplasia
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Summary:	Key Clinical Message A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasizing their value in this context. A 16‐year‐old girl with absent menstruation and short stature. Further examination revealed constitutional stunting and primary amenorrhea. Karyotyping revealed a 46, XY chromosomal abnormality, whereas pelvic ultrasonography showed uterine hypoplasia and a unicornuate uterus with a rudimentary horn. After 11 months of therapy, she experienced menarche and improved secondary sexual characteristics.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.9318