Moebius syndrome in association with hypogonadotropic hypogonadism

L. E. Brackett, Laurence Demers, Alexander Mamourian, C. Ellenberger, Richard J. Santen

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

The association between hypogonadotropic hypogonadism and multiple CNS lesions in a variety of disorders suggests a possible causative link between these clinical findings. Neural afferent input into the hypothalamus from higher CNS centers modulates GnRH secretion and derangements of these neural pathways could potentially result in diminished gonadotropin secretion and hypogonadism. This report describes a patient with multiple CNS defects secondary to Moebius syndrome and hypogonadotropic hypogonadism whose clinical features support the hypothesis that his CNS and endocrine defects may be causally associated. Comprehensive clinical evaluation in this patient revealed severe mental retardation; cranial nerve palsies; motor, reflex, and gait disturbances; and sexual infantilism secondary to hypogonadotropic hypogonadism. An MRI of the brain revealed atrophy or hypoplasia of the third cranial nerve and the olfactory gyri. Numerous syndromes including the Moebius syndrome are now described in which hypogonadotropic hypogonadism and CNS defects are associated. Detailed neuroanatomic and embryologic studies have demonstrated the important functional interrelationships between higher central nervous system centers and the hypothalamus. Taken together, these findings provide support for the causative association of multiple CNS defects and hypogonadotropic hypogonadism.

Original languageEnglish (US)
Pages (from-to)599-607
Number of pages9
JournalJournal of Endocrinological Investigation
Volume14
Issue number7
DOIs
StatePublished - Jan 1 1991

Fingerprint

Mobius Syndrome
Hypogonadism
Hypothalamus
Sexual Infantilism
Oculomotor Nerve
Cranial Nerve Diseases
Neural Pathways
Gonadotropins
Gait
Gonadotropin-Releasing Hormone
Intellectual Disability
Atrophy
Reflex
Central Nervous System
Brain

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Brackett, L. E. ; Demers, Laurence ; Mamourian, Alexander ; Ellenberger, C. ; Santen, Richard J. / Moebius syndrome in association with hypogonadotropic hypogonadism. In: Journal of Endocrinological Investigation. 1991 ; Vol. 14, No. 7. pp. 599-607.
@article{9649b887d0724645933cb45d3a78f8ac,
title = "Moebius syndrome in association with hypogonadotropic hypogonadism",
abstract = "The association between hypogonadotropic hypogonadism and multiple CNS lesions in a variety of disorders suggests a possible causative link between these clinical findings. Neural afferent input into the hypothalamus from higher CNS centers modulates GnRH secretion and derangements of these neural pathways could potentially result in diminished gonadotropin secretion and hypogonadism. This report describes a patient with multiple CNS defects secondary to Moebius syndrome and hypogonadotropic hypogonadism whose clinical features support the hypothesis that his CNS and endocrine defects may be causally associated. Comprehensive clinical evaluation in this patient revealed severe mental retardation; cranial nerve palsies; motor, reflex, and gait disturbances; and sexual infantilism secondary to hypogonadotropic hypogonadism. An MRI of the brain revealed atrophy or hypoplasia of the third cranial nerve and the olfactory gyri. Numerous syndromes including the Moebius syndrome are now described in which hypogonadotropic hypogonadism and CNS defects are associated. Detailed neuroanatomic and embryologic studies have demonstrated the important functional interrelationships between higher central nervous system centers and the hypothalamus. Taken together, these findings provide support for the causative association of multiple CNS defects and hypogonadotropic hypogonadism.",
author = "Brackett, {L. E.} and Laurence Demers and Alexander Mamourian and C. Ellenberger and Santen, {Richard J.}",
year = "1991",
month = "1",
day = "1",
doi = "10.1007/BF03346879",
language = "English (US)",
volume = "14",
pages = "599--607",
journal = "Journal of Endocrinological Investigation",
issn = "0391-4097",
publisher = "Editrice Kurtis s.r.l.",
number = "7",

}

Moebius syndrome in association with hypogonadotropic hypogonadism. / Brackett, L. E.; Demers, Laurence; Mamourian, Alexander; Ellenberger, C.; Santen, Richard J.

In: Journal of Endocrinological Investigation, Vol. 14, No. 7, 01.01.1991, p. 599-607.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Moebius syndrome in association with hypogonadotropic hypogonadism

AU - Brackett, L. E.

AU - Demers, Laurence

AU - Mamourian, Alexander

AU - Ellenberger, C.

AU - Santen, Richard J.

PY - 1991/1/1

Y1 - 1991/1/1

N2 - The association between hypogonadotropic hypogonadism and multiple CNS lesions in a variety of disorders suggests a possible causative link between these clinical findings. Neural afferent input into the hypothalamus from higher CNS centers modulates GnRH secretion and derangements of these neural pathways could potentially result in diminished gonadotropin secretion and hypogonadism. This report describes a patient with multiple CNS defects secondary to Moebius syndrome and hypogonadotropic hypogonadism whose clinical features support the hypothesis that his CNS and endocrine defects may be causally associated. Comprehensive clinical evaluation in this patient revealed severe mental retardation; cranial nerve palsies; motor, reflex, and gait disturbances; and sexual infantilism secondary to hypogonadotropic hypogonadism. An MRI of the brain revealed atrophy or hypoplasia of the third cranial nerve and the olfactory gyri. Numerous syndromes including the Moebius syndrome are now described in which hypogonadotropic hypogonadism and CNS defects are associated. Detailed neuroanatomic and embryologic studies have demonstrated the important functional interrelationships between higher central nervous system centers and the hypothalamus. Taken together, these findings provide support for the causative association of multiple CNS defects and hypogonadotropic hypogonadism.

AB - The association between hypogonadotropic hypogonadism and multiple CNS lesions in a variety of disorders suggests a possible causative link between these clinical findings. Neural afferent input into the hypothalamus from higher CNS centers modulates GnRH secretion and derangements of these neural pathways could potentially result in diminished gonadotropin secretion and hypogonadism. This report describes a patient with multiple CNS defects secondary to Moebius syndrome and hypogonadotropic hypogonadism whose clinical features support the hypothesis that his CNS and endocrine defects may be causally associated. Comprehensive clinical evaluation in this patient revealed severe mental retardation; cranial nerve palsies; motor, reflex, and gait disturbances; and sexual infantilism secondary to hypogonadotropic hypogonadism. An MRI of the brain revealed atrophy or hypoplasia of the third cranial nerve and the olfactory gyri. Numerous syndromes including the Moebius syndrome are now described in which hypogonadotropic hypogonadism and CNS defects are associated. Detailed neuroanatomic and embryologic studies have demonstrated the important functional interrelationships between higher central nervous system centers and the hypothalamus. Taken together, these findings provide support for the causative association of multiple CNS defects and hypogonadotropic hypogonadism.

UR - http://www.scopus.com/inward/record.url?scp=0025745159&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025745159&partnerID=8YFLogxK

U2 - 10.1007/BF03346879

DO - 10.1007/BF03346879

M3 - Article

VL - 14

SP - 599

EP - 607

JO - Journal of Endocrinological Investigation

JF - Journal of Endocrinological Investigation

SN - 0391-4097

IS - 7

ER -