Pit-1 Mutation and Lipoedema in a Family
Pit-1 Mutation and Lipoedema in a Family
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DOI：
10.1055/s-0029-1224154
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发表时间：
2010-06-01
影响因子：
1.8
通讯作者：
Nussey, S.
中科院分区：
文献类型：
--
作者：
Bano, G.;Mansour, S.;Nussey, S.
背景一位23岁的男性被转介到我们的诊所诊断为特发性孤立性生长激素缺乏症。详细的家族史显示身材矮小和肿胀的腿，只影响女性在他的family.Methods结合垂体功能检查显示生长激素缺乏症，继发性甲状腺功能减退症和低泌乳素血症的先证者。他的母亲患有低泌乳素血症和生长激素缺乏症。结果发现PIT-1基因突变（POU 1F 1），196 C> T，导致第1外显子P24 L的氨基酸改变。该突变也被发现在母亲的先证者，但不是在他的表型正常的同父异母siber.Conclusion的情况下，显示了一个新的协会的两个罕见的条件Pit-1突变和脂肪水肿在一个家庭，还没有被描述过。它还允许制定关于生长激素和性类固醇相互作用导致青春期易感受试者脂肪分布异常的假设
Background A 23-year-old male was referred to our clinic with diagnosis of idiopathic isolated growth hormone deficiency. A detailed family history revealed short stature and swelling of legs which only affected females in four generations of his family.Methods Combined pituitary function tests revealed growth hormone deficiency, secondary hypothyroidism and hypoprolactinemia in the proband. His mother had hypoprolactinemia and growth hormone deficiency. A diagnosis of inherited combined pituitary deficiency due to a PIT-1 mutation was suspected in view of the short stature with associated multiple pituitary hormone deficiencies.Results A mutation was identified in PIT-1 (POU1F1), 196C> T, which produces the amino acid change P24L in exon 1. The mutation was also found in the mother of the proband but not in his phenotypically normal half-sister.Conclusion The case shows a novel association of two rare conditions Pit-1 mutation and lipoedema in a family that has not been described before. It also allows formulation of hypothesis on the interaction of growth hormone and sex steroids resulting in abnormal fat distribution in predisposed subjects at the time of puberty