Déficit de 5 alfa-reductasa. Estimulación pre-quirúrgica con gel de dehidrotestosterona en un paciente
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Date
Subject
5 alpha reductase
DDS
Dihydrotestosterone
Surgery
Dominican Republic
5 alfa reductasa
DDS
Dihidrotestosterona
Cirugía
República Dominicana
DDS
Dihydrotestosterone
Surgery
Dominican Republic
5 alfa reductasa
DDS
Dihidrotestosterona
Cirugía
República Dominicana
Language:
Journal Title
Journal ISSN
Volume Title
Publisher
Intituto Tecnológico de Santo Domingo (INTEC)
Introducción: la deficiencia de 5 alfa reductasa es una enfermedad rara que produce alteración en el desarrollo sexual y cuya prevalencia se desconoce, pero que ha sido descrita en poblaciones con genealogías comunes en áreas de la República Dominicana, Turquía, Líbano y Papúa Nueva Guinea.
Material y métodos: presentamos un paciente preescolar que acude a consulta de revisión por presencia de masas en labios mayores bilaterales y ligero crecimiento del clítoris desde el nacimiento; procedente de un área del sur del país, conocida por registrar casos de anomalías de la diferenciación sexual por déficit de 5 alfa reductasa. Genitales externos de aspecto femenino, masas bilaterales de 2 ml en labios mayores, clítoris de 2 cm con ligera hipertrofia e introito vaginal. Se realizó cariotipo, determinaciones basales de testosterona y dihidrotestosterona, así como estudios sonográficos. Se aplicó gel de dihidrotestosterona a 0,2 mg/kg diarios en zona genital durante 4 meses previo la cirugía.
Resultados: el cariotipo fue 46xy. Relación Testosterona/Dihidrotestosterona: 41,25 Ecografía genital: dos (2) estructuras con características de testículos de dimensiones y morfología conservadas. Se realizó genitoplastia masculinizante. Después de 4 meses de aplicación diaria del preparado, se comprobó un crecimiento longitudinal del falo de 4,5 cm y una circunferencia de 4 cm.
Conclusión: la reconstrucción o genitoplastia a edades tempranas ofrece mejores resultados con la aplicación previa de dihidrotestosterona local.
Introduction: 5 alpha reductase deficiency is a rare disease that produces alterations in sexual development whose prevalence is unknown but has been described in populations with common genealogy in areas of the Dominican Republic, Turkey, Lebanon and Papua New Guinea. Material and methods: We present a preschool patient who attends a review consultation due to the presence of masses in bilateral labia majora and slight growth of the clitoris since birth from an area in the south of the country known to present cases of abnormalities of sexual differentiation due to 5 alpha reductase deficiency. Female-looking external genitalia, bilateral 2ml masses in the labia majora, 2cm clitoris with slight hypertrophy and vaginal introitus. Karyotype, baseline testosterone and dihydrotestosterone determinations, as well as sonographic studies were performed. Dihydrotestosterone gel at 0.2 mg/kg daily was applied to the genital area for 4 months prior to surgery. Results: The karyotype was 46xy. Testosterone/Dihydrotestosterone ratio: 41.25 Genital ultrasound: 2 structures with characteristics of testicles with preserved dimensions and morphology. masculinizing genitoplasty was performed. After 4 months of daily application of the preparation, a longitudinal growth of the phallus of 4.5 cm and a circumference of 4 cm were confirmed. Conclusion: Reconstruction or genitoplasty at an early age offers better results with the prior application of local dihydrotestosterone.
Introduction: 5 alpha reductase deficiency is a rare disease that produces alterations in sexual development whose prevalence is unknown but has been described in populations with common genealogy in areas of the Dominican Republic, Turkey, Lebanon and Papua New Guinea. Material and methods: We present a preschool patient who attends a review consultation due to the presence of masses in bilateral labia majora and slight growth of the clitoris since birth from an area in the south of the country known to present cases of abnormalities of sexual differentiation due to 5 alpha reductase deficiency. Female-looking external genitalia, bilateral 2ml masses in the labia majora, 2cm clitoris with slight hypertrophy and vaginal introitus. Karyotype, baseline testosterone and dihydrotestosterone determinations, as well as sonographic studies were performed. Dihydrotestosterone gel at 0.2 mg/kg daily was applied to the genital area for 4 months prior to surgery. Results: The karyotype was 46xy. Testosterone/Dihydrotestosterone ratio: 41.25 Genital ultrasound: 2 structures with characteristics of testicles with preserved dimensions and morphology. masculinizing genitoplasty was performed. After 4 months of daily application of the preparation, a longitudinal growth of the phallus of 4.5 cm and a circumference of 4 cm were confirmed. Conclusion: Reconstruction or genitoplasty at an early age offers better results with the prior application of local dihydrotestosterone.
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info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/publishedVersion
Source
Science and Health; Vol. 6 No. 3 (2022): Science and Health, september-december; 105-109
Ciencia y Salud; Vol. 6 Núm. 3 (2022): Ciencia y Salud, septiembre-diciembre; 105-109
2613-8824
2613-8816
10.22206/cysa.2022.v6i3
Ciencia y Salud; Vol. 6 Núm. 3 (2022): Ciencia y Salud, septiembre-diciembre; 105-109
2613-8824
2613-8816
10.22206/cysa.2022.v6i3