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Artículo

Accelerated pubertal tempo in a 46,XY aromatase-deficient patient

Costanzo, Mariana; Garcia Feyling, José; Saraco, Nora IsabelIcon ; Marino, Roxana Marcela; Pérez Garrido, Natalia; Touzon, María SolIcon ; Viterbo, Gisela Lorena; Lazzati, Juan Manuel; Patiño, Hellem Carolina; Mattone, María CelesteIcon ; Maceiras, Mercedes Carmen; Belgorosky, AliciaIcon ; Guercio, Gabriela VivianaIcon
Fecha de publicación: 08/2018
Editorial: Karger
Revista: Hormone Research in Paediatrics
ISSN: 1663-2826
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Otras Ciencias de la Salud

Resumen

Background: Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Data on pubertal development in affected males are scarce. Aim: To report the clinical phenotype and hormonal studies of an aromatase-deficient boy during the prepubertal and early pubertal period. Results: The patient was the older brother of a 46,XX girl with aromatase deficiency. Molecular analysis revealed a previously reported homozygous mutation (Arg192Cys) in the CYP19A1 gene. Pubertal onset was at 9.8 years. At 11.3 years of age, signs of rapidly progressive puberty were seen. Laboratory tests revealed normal pubertal basal and GnRH-stimulated gonadotropin levels, normal Sertoli cell markers, and increased testosterone. The prepubertal lumbar spine bone mineral density (BMD) was normal but pubertal bone mineral accrual was incomplete, leading to osteopenia. Conclusion: Estrogen restraint on gonadotropin secretion has been demonstrated in animal and human models. Interestingly, our patient presented with accelerated puberty and apparently normal pituitary gonadal function. These findings suggest that aromatase activity may be required to define pubertal progression in boys. Estrogen deficiency due to aromatase deficiency is responsible for insufficient bone mineral accrual during puberty.
Palabras clave: AROMATASE DEFICIENCY , BONE MINERAL DENSITY , HYPOTHALAMIC-PITUITARY-GONADAL AXIS , PUBERTY
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/162434
URL: https://www.karger.com/Article/Abstract/492128
DOI: http://dx.doi.org/10.1159/000492128
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Citación
Costanzo, Mariana; Garcia Feyling, José; Saraco, Nora Isabel; Marino, Roxana Marcela; Pérez Garrido, Natalia; et al.; Accelerated pubertal tempo in a 46,XY aromatase-deficient patient; Karger; Hormone Research in Paediatrics; 90; 4; 8-2018; 275-282
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