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Gonadotropin Deficiency as a Significant Association of Complex Glycerol Kinase Deficiency: A Case Report with Cytogenetic and Molecular‐Genetic Studies
Author(s) -
Yoshimoto Masaaki,
Baba Tsuneyoshi,
Fukuda Shinpei,
Matsumoto Tadashi,
Hayashi Sawako,
Niikawa Norio,
Matsuda Lchiro,
Tsuji Yoshiro
Publication year - 1988
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1988.tb01588.x
Subject(s) - medicine , endocrinology , gonadotropin , glycerol kinase , hypoplasia , chromosomal translocation , gene , genetics , biology , hormone
A 6‐year‐old Japanese male patient with complex glycerol kinase deficiency (CGKD) is described. In addition to glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy, mental retardation and short stature, gonadotropin deficiency (GTD) was confirmed. The continuous stimulation of LHRH recovered the increment of serum LH and FSH values. Cytogenetic and molecular‐genetic studies revealed a deletion in the Xp21 region which may involve many genes. Although a few cases of CGKD associated with GTD and/or cryptorchidism have been described, the cause of GTD has not been mentioned in the literature. The simultaneous occurrence of CGKD and GTD in these patients including ours may not be coincidental, but suggests the existence of a certain gene in the Xp21 region which may affect the development of hypothalamic LHRH secretory function. Therefore detailed and repeated evaluations of gonadotropin secretion are necessary in patients with CGKD.