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
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Urology Case Reports
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
Institutions: University of Sulaimani, University of Halabja
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,160
OpenAlex ID: W4409525618