July 23, 2025

A Rare Case of 45,X5/46XX55 21-Hydroxylase Deficiency with Female Pseudohermaphroditism and a Giant Uterine Fibroid: Diagnosis and Treatment

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Authors

WWWei WangDalian Ocean University YLYang LiuShenzhen Maternity and Child Healthcare Hospital HWHui WangUnion Hospital

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Implication

This case reports a complex instance of 21-hydroxylase deficiency and female pseudohermaphroditism, highlighting the role of genetic testing and multidisciplinary treatment strategies.

Key Points

The patient presented with both a giant uterine fibroid and adrenal tumor, complicating their condition.
Genetic testing confirmed compound heterozygous variants in the CYP21A2 gene, establishing a diagnosis of 21-hydroxylase deficiency.
A total hysterectomy and bilateral salpingo-oophorectomy were performed to manage the associated complications.
Multidisciplinary approaches are vital to effectively treat and manage rare and complex endocrine disorders like this case.

Cite This Study

Wang et al. (2025) studied this question.

synapsesocial.com/papers/689a061be6551bb0af8cdb2b https://doi.org/10.21203/rs.3.rs-6871714/v1

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Implication

This case reports a complex instance of 21-hydroxylase deficiency and female pseudohermaphroditism, highlighting the role of genetic testing and multidisciplinary treatment strategies.

A Rare Case of 45,X5/46XX55 21-Hydroxylase Deficiency with Female Pseudohermaphroditism and a Giant Uterine Fibroid: Diagnosis and Treatment

Discussion

Member takes

Implication

Key Points

Cite This Study

A Rare Case of 45,X5/46XX55 21-Hydroxylase Deficiency with Female Pseudohermaphroditism and a Giant Uterine Fibroid: Diagnosis and Treatment

Discussion

Member takes

Implication

Key Points

Cite This Study

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