Moebius sequence and hypogonadotrophic hypogonadism

A distinct form of Moebius sequence is associated with hypogonadotrophic hypogonadism. There have been five such cases to date. We now add a further case with detailed neurologic, endocrine, and autopsy findings and offer a hypothesis drawing parallels with the already established basis of hypogonad...

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Veröffentlicht in:	American journal of medical genetics 2003-11, Vol.123A (1), p.107-110
Hauptverfasser:	Jennings, Juliet E., Costigan, Colm, Reardon, William
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cranial Nerve Diseases - diagnosis General aspects. Genetic counseling Gonadotropins, Pituitary - deficiency Humans Hypogonadism - diagnosis hypogonadotrophic hypogonadism Infant Infant, Newborn Kallman syndrome Kallmann Syndrome - diagnosis Male Medical genetics Medical sciences Mobius Syndrome - diagnosis Moebius sequence
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Beschreibung
Zusammenfassung:	A distinct form of Moebius sequence is associated with hypogonadotrophic hypogonadism. There have been five such cases to date. We now add a further case with detailed neurologic, endocrine, and autopsy findings and offer a hypothesis drawing parallels with the already established basis of hypogonadotrophic hypogonadism in the X‐linked form of Kallman syndrome. © 2003 Wiley‐Liss, Inc.
ISSN:	1552-4825 0148-7299 1552-4833 1096-8628
DOI:	10.1002/ajmg.a.20500