The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
J Clin Endocrinol Metab
; 101(11): 3959-3967, 2016 Nov.
Article
em En
| MEDLINE
| ID: mdl-27403927
ABSTRACT
BACKGROUND:
In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking.OBJECTIVE:
To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis.METHODS:
Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR.RESULTS:
The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P = .9), and median current external masculinization scores were 9 and 10, respectively (P = .28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P = .004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation.CONCLUSIONS:
Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Resistência a Andrógenos
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Envelhecimento
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Receptores Androgênicos
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Mutação
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Incidence_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Humans
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Infant
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Male
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Middle aged
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Newborn
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article