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Hypogonadotrophic hypogonadism in Roifman syndrome
Author(s) -
Robertson Stephen P,
Rodda Christine,
Bankier Agnes
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570606.x
Subject(s) - hypogonadotrophic hypogonadism , medicine , etiology , delayed puberty , endocrinology , hormone
The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and characteristic facial dysmorphism has recently been delineated as a discrete disorder thus far only reported in males. This report describes a fifth individual with co‐existent hypogonadotrophic hypogonadism, thereby expanding the phenotype and possibly offering insight into the genetic aetiology of this condition.