Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6

被引:0
作者
Valerio, G
Franzese, A
Palmieri, A
Mackay, DJG
Gardner, RJ
Temple, IK
机构
[1] Univ Udine, Cattedra Pediat, Dept Pediat, DPMSC, I-33100 Udine, Italy
[2] Univ Naples Federico II, Dept Pediat, Naples, Italy
[3] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England
[4] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England
关键词
precocious puberty; triple X; neonatal diabetes mellitus; uniparental isodisomy;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We describe a girl with triple X syndrome and paternal isodisomy of chromosome 6 (UPD6), who developed neonatal diabetes mellitus (NDM) and precocious puberty. At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia). Diabetes mellitus (DM) was diagnosed at 31 days of life and treated with insulin for 13 months. DM recurred at 4 years of age and since that time it required insulin, in spite of preserved beta-cell function. Tall stature was present from early childhood. At 7 years of age the girl presented central precocious puberty, height velocity further increased, but her near-final height was normal. This patient is unique in that precocious puberty has never been described in triple X females. Moreover it is a further example of paternal UPD6 causing NDM with a predisposition to type 2 DM in later life.
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收藏
页码:897 / 900
页数:4
相关论文
共 11 条
[11]   Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23 [J].
Temple, IK ;
Gardner, RJ ;
Robinson, DO ;
Kibirige, MS ;
Ferguson, AW ;
Baum, JD ;
Barber, JCK ;
James, RS ;
Shield, JPH .
HUMAN MOLECULAR GENETICS, 1996, 5 (08) :1117-1121