Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches. A 10-year-old phenotypic male with impalpable testes and hypospadias had ambiguous genitalia and an empty scrotum. Imaging showed intra-abdo...

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Main Authors: Rawa Bapir, Ismaeel Aghaways, Shaho F. Ahmed, Nali H. Hama, Ari M. Abdullah, Soran H. Tahir, Zana B. Najmadden, Fahmi H. Kakamad, Aso N. Qadir, Tomas M. Mikael
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Urology Case Reports
Subjects:
Ambiguous genitalia
21-Hydroxylase deficiency
Verumontanum
Online Access:http://www.sciencedirect.com/science/article/pii/S2214442025000993
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Summary:Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches. A 10-year-old phenotypic male with impalpable testes and hypospadias had ambiguous genitalia and an empty scrotum. Imaging showed intra-abdominal gonads and no uterus. Blood tests revealed low cortisol, high ACTH, and 17-OHP. Karyotyping confirmed 46 XX. CAH can virilize 46 XX individuals, sometimes resulting in male assignment. Late presentation with male identity may support gender choice for better psychological outcomes.
ISSN:2214-4420

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