Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations
A 23-year-old female patient was referred to the radiology department for evaluation of sexual dysfunction. A previous gynecological examination revealed clitoral hypertrophy and a vagina explorable to a depth of only 2 cm. Hormonal testing showed reduced cortisol levels, along with elevated ACTH an...
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Elsevier
2025-07-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325003322 |
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| author | Sofia Bianchi, MD Maria Gloria Angeretti, MD Valeria Molinelli, MD Filippo Piacentino, MD Massimo Venturini, MD |
| author_facet | Sofia Bianchi, MD Maria Gloria Angeretti, MD Valeria Molinelli, MD Filippo Piacentino, MD Massimo Venturini, MD |
| author_sort | Sofia Bianchi, MD |
| collection | DOAJ |
| description | A 23-year-old female patient was referred to the radiology department for evaluation of sexual dysfunction. A previous gynecological examination revealed clitoral hypertrophy and a vagina explorable to a depth of only 2 cm. Hormonal testing showed reduced cortisol levels, along with elevated ACTH and testosterone. Cytogenetic analysis confirmed a 46, XX karyotype; FISH testing was negative for the SRY gene. Pelvic MRI revealed clitoromegaly with evidence of corpora cavernosa forming a penis, a small prostate in the periurethral region, and a vagina that converged with the urethra, forming a common urogenital sinus. No structures suggestive of a scrotum or soft tissue indicative of testicles were observed. The uterus and ovaries appeared normal. Abdominal MRI demonstrated right adrenal hyperplasia.Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from defects in adrenal steroidogenesis, with affected individuals displaying various genital malformations. MRI plays a key role in diagnosing and evaluating these complex genital malformations, both of internal and external genitalia. It aids in addressing symptoms of affected individuals, such as recurrent urinary infections, urinary retention, and sexual dysfunction, and provides preoperative imaging prior to surgical correction. MRI also enables the detection of a prostate gland in patients with CAH, serving as a valuable tool for prostate cancer screening when combined with PSA monitoring. |
| format | Article |
| id | doaj-art-4e58abaca91d4744ac2546d1adc63c95 |
| institution | OA Journals |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-4e58abaca91d4744ac2546d1adc63c952025-08-20T02:31:29ZengElsevierRadiology Case Reports1930-04332025-07-012073521352510.1016/j.radcr.2025.04.031Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformationsSofia Bianchi, MD0Maria Gloria Angeretti, MD1Valeria Molinelli, MD2Filippo Piacentino, MD3Massimo Venturini, MD4Vita-Salute San Raffaele University, Via Olgettina, Milan 58 – 20132, Italy; Diagnostic and Interventional Radiology Department, Circolo and Fondazione Macchi Hospital, ASST Sette Laghi, Viale Borri, Varese 57 – 21100, Italy; Corresponding author.Diagnostic and Interventional Radiology Department, Circolo and Fondazione Macchi Hospital, ASST Sette Laghi, Viale Borri, Varese 57 – 21100, Italy; University of Insubria, Via Ottorino Rossi, Varese 9 – 21100, ItalyDiagnostic and Interventional Radiology Department, Circolo and Fondazione Macchi Hospital, ASST Sette Laghi, Viale Borri, Varese 57 – 21100, Italy; University of Insubria, Via Ottorino Rossi, Varese 9 – 21100, ItalyDiagnostic and Interventional Radiology Department, Circolo and Fondazione Macchi Hospital, ASST Sette Laghi, Viale Borri, Varese 57 – 21100, Italy; University of Insubria, Via Ottorino Rossi, Varese 9 – 21100, ItalyDiagnostic and Interventional Radiology Department, Circolo and Fondazione Macchi Hospital, ASST Sette Laghi, Viale Borri, Varese 57 – 21100, Italy; University of Insubria, Via Ottorino Rossi, Varese 9 – 21100, ItalyA 23-year-old female patient was referred to the radiology department for evaluation of sexual dysfunction. A previous gynecological examination revealed clitoral hypertrophy and a vagina explorable to a depth of only 2 cm. Hormonal testing showed reduced cortisol levels, along with elevated ACTH and testosterone. Cytogenetic analysis confirmed a 46, XX karyotype; FISH testing was negative for the SRY gene. Pelvic MRI revealed clitoromegaly with evidence of corpora cavernosa forming a penis, a small prostate in the periurethral region, and a vagina that converged with the urethra, forming a common urogenital sinus. No structures suggestive of a scrotum or soft tissue indicative of testicles were observed. The uterus and ovaries appeared normal. Abdominal MRI demonstrated right adrenal hyperplasia.Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from defects in adrenal steroidogenesis, with affected individuals displaying various genital malformations. MRI plays a key role in diagnosing and evaluating these complex genital malformations, both of internal and external genitalia. It aids in addressing symptoms of affected individuals, such as recurrent urinary infections, urinary retention, and sexual dysfunction, and provides preoperative imaging prior to surgical correction. MRI also enables the detection of a prostate gland in patients with CAH, serving as a valuable tool for prostate cancer screening when combined with PSA monitoring.http://www.sciencedirect.com/science/article/pii/S1930043325003322Congenital adrenal hyperplasia (CAH)Ambiguous genitaliaMagnetic resonance imaging (MRI)VirilizationPseudohermaphroditismSexual dysfunction |
| spellingShingle | Sofia Bianchi, MD Maria Gloria Angeretti, MD Valeria Molinelli, MD Filippo Piacentino, MD Massimo Venturini, MD Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations Radiology Case Reports Congenital adrenal hyperplasia (CAH) Ambiguous genitalia Magnetic resonance imaging (MRI) Virilization Pseudohermaphroditism Sexual dysfunction |
| title | Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations |
| title_full | Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations |
| title_fullStr | Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations |
| title_full_unstemmed | Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations |
| title_short | Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations |
| title_sort | undiagnosed congenital adrenal hyperplasia in a young woman mri insights into complex genital malformations |
| topic | Congenital adrenal hyperplasia (CAH) Ambiguous genitalia Magnetic resonance imaging (MRI) Virilization Pseudohermaphroditism Sexual dysfunction |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325003322 |
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