 |
Case Report
A rare case of 21-hydroxylase deficiency presenting as precocious puberty in a male child
1 Chemical Pathologist, Department of Chemical Pathology, University of Limpopo, Polokwane, Limpopo Province, South Africa
2 Paediatrician Specialist, Department of Paediatrics, University of Limpopo, Polokwane, Limpopo Province, South Africa
3 Radiology Specialist, Department of Diagnostic Radiology, University of Limpopo, Polokwane, Limpopo Province, South Africa
4 Head of Department, Department of Paediatrics, University of Limpopo, Polokwane, Limpopo Province, South Africa
Address correspondence to:
Tumelo M Satekge
Chemical Pathologist, Department of Chemical Pathology, University of Limpopo, Polokwane, Limpopo Province,
South Africa
Message to Corresponding Author
Article ID: 100029Z19TS2025
Access full text article on other devices
Access PDF of article on other devices
How to cite this article
Satekge TM, Tshipeng JPM, Khosa RJ, Sutton C. A rare case of 21-hydroxylase deficiency presenting as precocious puberty in a male child. J Case Rep Images Pediatr 2025;7(2):5–9.ABSTRACT
Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to impaired cortisol and/or aldosterone biosynthesis with simultaneous shunting to the intact androgen pathway. In contrast to females, males with CAH due to 21-hydroxylase deficiency may not always be detected at birth, and are often diagnosed later in life subsequent to life threatening adrenal crises and excessive virilization.
Case Report: Our case is a 9-year-old boy who presented at the age of 4 years with tall stature, a large penis, pubic hair as well as mild intellectual disability. His biochemical results revealed low follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (<1.0 IU/L for both), elevated testosterone 12.5 nmol/L (0.1–0.9), and elevated 17-OH progesterone 87.0 nmol/L (0.5–2.2). Radiological imaging showed physeal closure in consonance with the age of 17 years, normal appearance of the adrenal glands on magnetic resonance imaging (MRI), however, adrenal rests were detected in his testes. The diagnosis was confirmed by biallelic pathogenic variants namely, c.293-13C>G splice site variant and c.955G>A p.(Gln319Ter) in the CYP21A2 gene.
Conclusion: The unavailability of universal newborn screening (NBS) in the low-and-middle-income countries contributes to treatable conditions such as CAH being missed particularly in male patients leading to potentially dire consequences to affected patients and their families. Comprehensive clinical assessment, together with appropriate laboratory and radiological investigations are fundamental for timely diagnosis and treatment of non-classical CAH.
Keywords: Congenital adrenal hyperplasia, CYP21A2 gene, 21-Hydroxylase deficiency, Precocious puberty
SUPPORTING INFORMATION
Author Contributions
Tumelo M Satekge - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Jean Paul Mulang Tshipeng - Conception of the work, Design of the work, Acquisition of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Refiloe Johana Khosa - Analysis of data, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Chris Sutton - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2025 Tumelo M Satekge et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
