Virilizing congenital adrenal hyperplasia attributable to steroid 21 hydroxylase deficiency A case report.

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Ramón Miguel Calixto Vargas Vera
Martha Verónica Placencia- Ibadango
Cesar William Luciano Salazar
Kalid Stefano Vargas-Silva
Sandra Lara Maruri

Abstract

Introduction: Congenital adrenal hyperplasia is a hereditary disorder caused by the failure of adrenal steroidogenesis. 21-Hydroxylase (21OHD) deficiency accounts for 95% of cases. In severe cases, glucocorticoid and mineralocorticoid synthesis is blocked, which may manifest in the neonatal period, childhood, or adulthood.


Clinical case: We present a case of ambiguous genitalia with a 2 cm long phallus or clitoris, scrotal labia majora, and a single genital orifice at the level of the midraphe. The gonads are not palpable.


Diagnostic workshop: The 17OHP level on day 3 of life was 95 ng/mL, and the karyotype was 46,XX. Blood gas analysis at admission revealed metabolic acidosis.


Progress: The patient is being monitored as an outpatient with urinary and serum sodium measurements. No abnormalities have been reported thus far.


Conclusions: Neonatal diagnosis is essential to identify the origin of a hereditary disorder that affects the development of girls' external genitalia and can cause death in infancy due to salt loss. Newborn screening is essential, as is preconception genetic counseling.

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How to Cite
Virilizing congenital adrenal hyperplasia attributable to steroid 21 hydroxylase deficiency: A case report. (2025). Actas Médicas (Ecuador), 35(1), 71-75. https://doi.org/10.61284/230
Section
Case Reports
Author Biographies

Ramón Miguel Calixto Vargas Vera, Faculty of Medicine, University of Guayaquil. Guayaquil, Ecuador.

Doctor of Medicine and Surgery, University of Guayaquil, Ecuador, 2002. Specialist in gynecology and obstetrics from the University of Buenos Aires (2008). Higher Diploma in Competency-Based Curriculum Design from the University of Guayaquil (2009). Specialist in Medical Genetics from the University of Guayaquil (2011). Master's Degree in Curriculum Design from the University of Guayaquil (2012). Doctor of Medical Sciences from the University of Zulia (Venezuela, 2022). Professor of Gynecology and Obstetrics, University of Guayaquil.

Martha Verónica Placencia- Ibadango, Faculty of Medicine, University of Guayaquil. Guayaquil, Ecuador.

 Secondary school teacher from the University of Guayaquil (2003). Secondary school teachers specializing in English and linguistics from the University of Guayaquil (2003). Bachelor of Science in Educational Specialization in English and Linguistics from the University of Guayaquil (2003). Training of trainers by the Higher Technological Institute of Babahoyo (Guayas, 2024). Teaching activities in the methodology based on learning projects (PBL) by the Higher Technological Institute of Babahoyo (Guayas, 2024). Professor of research methodology, with a degree in medicine from the University of Guayaquil.

 

Cesar William Luciano Salazar, Universidad Nacional de Tumbes, Perú

Professional: Obstetrician and Bachelor of Education; Specialist: Obstetric Emergency Care and Critical Care; Postgraduate: Doctorate and Master's in Education. Professional Practice: University Professor (National University of Tumbes) and Obstetrician Assistant in a Health Facility (Diresa Tumbes - Ministry of Health).

Kalid Stefano Vargas-Silva, University of Buenos Aires, Buenos Aires, Argentina.

MD, from the University of Guayaquil (2020). Postgraduate degree in cardiology from the Catholic University of Guayaquil.

Sandra Lara Maruri, Guayaquil University Hospital. Guayaquil, Ecuador.

MD, from the University of Guayaquil (2012). Specialist in Pediatrics from the Catholic University of Santiago de Guayaquil (Guayaquil, 2018).

How to Cite

Virilizing congenital adrenal hyperplasia attributable to steroid 21 hydroxylase deficiency: A case report. (2025). Actas Médicas (Ecuador), 35(1), 71-75. https://doi.org/10.61284/230

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