Journal
ARCHIVES OF DISEASE IN CHILDHOOD
Volume 99, Issue 4, Pages 358-361Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/archdischild-2013-305338
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Funding
- European Union
- Newlife Foundation
- Cambridge NIHR Biomedical Research Centre
- Ferring
- Medical Research Council [MC_UU_12015/2, MC_U106179472] Funding Source: researchfish
- MRC [MC_UU_12015/2, MC_U106179472] Funding Source: UKRI
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Objective 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. Methods 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'). Results 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; p<0.001), lower gestational age (37.0, 34.0 to 40.0 vs 40.0, 39.0 to 40.0 weeks; p<0.001), 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 (p<0.001). Conclusions 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.
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