Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction
| Autor: | Ken K. Ong, Trevor Bunch, Rieko Tadokoro-Cuccaro, Ngee Lek, John Davies, Ieuan A. Hughes, Harriet L Miles, Vickie Pilfold-Wilkie |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Male
medicine.medical_specialty Databases Factual Birth weight Gestational Age Genitalia Male Severity of Illness Index Internal medicine Molecular genetics medicine Birth Weight Humans Disorders of sex development Partial androgen insensitivity syndrome Pregnancy Disorder of Sex Development 46 XY Fetal Growth Retardation business.industry Infant Newborn Gestational age Androgen-Insensitivity Syndrome medicine.disease Phenotype Endocrinology Receptors Androgen Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) business |
| Zdroj: | Archives of Disease in Childhood. 99:358-361 |
| ISSN: | 1468-2044 0003-9888 |
| DOI: | 10.1136/archdischild-2013-305338 |
| Popis: | The diagnosis of partial androgen insensitivity syndrome (PAIS) should be reserved for infants with a pathogenic androgen receptor gene (AR) mutation. However, only about 20% of infants with a clinical phenotype akin to PAIS have an AR mutation. We aimed to identify clinical features associated with the presence of an AR mutation.The external masculinisation score (EMS; normal=12), birth weight (BW), gestational age and BW SD score (BW-SDS) of 164 infants with a 'PAIS-like' phenotype were analysed in the Cambridge Disorders of Sex Development (DSD) Database, of whom 128 (78%) had no AR mutation ('AR mutation-negative') and 36 (22%) had an AR mutation ('AR mutation-positive').The EMS was similar in AR mutation-negative and AR mutation-positive infants (median, IQR: 5.0, 3.0 to 6.0 vs 4.8, 3.0 to 6.0; p=0.33). AR mutation-negative infants had lower BW (2.33, 1.38 to 3.20 vs 3.18, 2.87 to 3.61 kg; p0.001), lower gestational age (37.0, 34.0 to 40.0 vs 40.0, 39.0 to 40.0 weeks; p0.001), and lower BW-SDS (-1.31, -2.33 to -0.46 vs -0.57, -1.19 to 0.33; p=0.001) compared to AR mutation-positive infants. More AR mutation-negative infants (47/128; 37%) than AR mutation-positive infants (2/36; 6%) had BW-SDS-2 (p0.001).The severity of genital anomalies in this large cohort of infants with a 'PAIS-like' phenotype did not differentiate their AR status. Almost all the infants born small-for-gestational-age do not have an AR mutation. A category of 'XY DSD and fetal growth restriction, as yet unexplained' should be recognised. |
| Databáze: | OpenAIRE |
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