The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene
| Autor: | Lucas-Herald, A., Bertelloni, S., Juul, A., Bryce, J., Jiang, J., Rodie, M., Sinnott, R., Boroujerdi, M., Lindhardt Johansen, M., Hiort, O., Holterhus, P. M., Cools, Martine, Guaragna-Filho, G., Guerra-Junior, G., Weintrob, N., Hannema, S., Drop, S., Guran, T., Darendeliler, F., Nordenstrom, A., Hughes, I. A., Acerini, C., Tadokoro-Cuccaro, R., Ahmed, S. F. |
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| Přispěvatelé: | Pediatric surgery |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male Aging Adolescent DISORDERS HORMONE-LEVELS INHIBITION Severity of Illness Index DISEASE HYPOSPADIAS Cohort Studies Young Adult TESTOSTERONE BINDING Medicine and Health Sciences FERTILITY Humans Registries Child Mastectomy SEX DEVELOPMENT Retrospective Studies Puberty Delayed Hypospadias Disorder of Sex Development 46 XY Infant Newborn Infant International Agencies MEN Original Articles Androgen-Insensitivity Syndrome Middle Aged Prognosis Receptors Androgen Child Preschool Mutation Disease Progression Gynecomastia |
| Zdroj: | Lucas-Herald, A, Bertelloni, S, Juul, A, Bryce, J, Jiang, J, Rodie, M, Sinnott, R, Boroujerdi, M, Lindhardt Johansen, M, Hiort, O, Holterhus, P M, Cools, M, Guaragna-Filho, G, Guerra-Junior, G, Weintrob, N, Hannema, S, Drop, S, Guran, T, Darendeliler, F, Nordenstrom, A, Hughes, I A, Acerini, C, Tadokoro-Cuccaro, R & Ahmed, S F 2016, ' The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene ', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 11, pp. 3959-3967 . https://doi.org/10.1210/jc.2016-1372 The Journal of Clinical Endocrinology and Metabolism Journal of Clinical Endocrinology and Metabolism, 101(11), 3959-3967. The Endocrine Society Journal of Clinical Endocrinology and Metabolism, 101(11), 3959-3967 JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM |
| ISSN: | 0021-972X 3959-3967 1945-7197 |
| DOI: | 10.1210/jc.2016-1372 |
| Popis: | 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. Using the I-DSD Registry, a study of long-term outcome in young men suspected of having PAIS in childhood reveals that outcome is clearly worse in those with a confirmed AR gene mutation. |
| Databáze: | OpenAIRE |
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