Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation

Moebius syndrome is a rare congenital condition typically characterised by congenital facial and abducens nerve palsies. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The aetiology is not well understood, but may relate to chro...

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Main Authors:	Omar , Ahmad Marzuki, Shahar, Mohammad Arif, Abd Wahab, Norasyikin, Mustafa, Norlaila, Sukor, Norlela, Kamaruddin, Nor Azmi
Format:	Article
Language:	English
Published:	Malaysian Endocrine and Metabolic Society 2014
Subjects:	R Medicine (General) RC Internal medicine
Online Access:	http://irep.iium.edu.my/50104/ http://irep.iium.edu.my/50104/ http://irep.iium.edu.my/50104/1/98-385-1-PB.pdf

id	iium-50104
recordtype	eprints
spelling	iium-501042018-01-03T09:50:02Z http://irep.iium.edu.my/50104/ Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation Omar , Ahmad Marzuki Shahar, Mohammad Arif Abd Wahab, Norasyikin Mustafa, Norlaila Sukor, Norlela Kamaruddin, Nor Azmi R Medicine (General) RC Internal medicine Moebius syndrome is a rare congenital condition typically characterised by congenital facial and abducens nerve palsies. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The aetiology is not well understood, but may relate to chromosomal abnormalities and exposure to teratogens and vascular events during gestation. Kallmann syndrome, on the other hand, consists of congenital hypogonadotropic hypogonadism and anosmia. It represents a form of isolated GnRH deficiency. There have been several reported cases of Moebius syndrome associated with Kallmann syndrome, with one reported case of Moebius syndrome with diabetes insipidus and another of Kallmann syndrome with diabetes insipidus. We report a 30-year-old man who was born with left lower motor neuron facial, abducens and oculomotor nerve palsies, dental agenesis, hypogonadotropic hypogonadism with bilateral cryptorchidism and micropenis. His developmental milestones were delayed. At the age of 10 years old, he had progressive hearing loss following recurrent bilateral otitis media with effusion. A year later he was diagnosed with central diabetes insipidus and noted to have anosmia and bilateral optic disc coloboma. The pituitary MRI findings were normal. This case illustrates a rare combination of Moebius and Kallmann syndromes with diabetes insipidus, which may well describe the FGF8 mutation in this patient. Malaysian Endocrine and Metabolic Society 2014 Article PeerReviewed application/pdf en http://irep.iium.edu.my/50104/1/98-385-1-PB.pdf Omar , Ahmad Marzuki and Shahar, Mohammad Arif and Abd Wahab, Norasyikin and Mustafa, Norlaila and Sukor, Norlela and Kamaruddin, Nor Azmi (2014) Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation. Journal of Endocrinology and Metabolism, 4 (3). pp. 44-48. ISSN 2229-9572 http://www.jmems.org/index.php/jmems/article/viewFile/98/87
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English
topic	R Medicine (General) RC Internal medicine
spellingShingle	R Medicine (General) RC Internal medicine Omar , Ahmad Marzuki Shahar, Mohammad Arif Abd Wahab, Norasyikin Mustafa, Norlaila Sukor, Norlela Kamaruddin, Nor Azmi Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
description	Moebius syndrome is a rare congenital condition typically characterised by congenital facial and abducens nerve palsies. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The aetiology is not well understood, but may relate to chromosomal abnormalities and exposure to teratogens and vascular events during gestation. Kallmann syndrome, on the other hand, consists of congenital hypogonadotropic hypogonadism and anosmia. It represents a form of isolated GnRH deficiency. There have been several reported cases of Moebius syndrome associated with Kallmann syndrome, with one reported case of Moebius syndrome with diabetes insipidus and another of Kallmann syndrome with diabetes insipidus. We report a 30-year-old man who was born with left lower motor neuron facial, abducens and oculomotor nerve palsies, dental agenesis, hypogonadotropic hypogonadism with bilateral cryptorchidism and micropenis. His developmental milestones were delayed. At the age of 10 years old, he had progressive hearing loss following recurrent bilateral otitis media with effusion. A year later he was diagnosed with central diabetes insipidus and noted to have anosmia and bilateral optic disc coloboma. The pituitary MRI findings were normal. This case illustrates a rare combination of Moebius and Kallmann syndromes with diabetes insipidus, which may well describe the FGF8 mutation in this patient.
format	Article
author	Omar , Ahmad Marzuki Shahar, Mohammad Arif Abd Wahab, Norasyikin Mustafa, Norlaila Sukor, Norlela Kamaruddin, Nor Azmi
author_facet	Omar , Ahmad Marzuki Shahar, Mohammad Arif Abd Wahab, Norasyikin Mustafa, Norlaila Sukor, Norlela Kamaruddin, Nor Azmi
author_sort	Omar , Ahmad Marzuki
title	Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
title_short	Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
title_full	Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
title_fullStr	Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
title_full_unstemmed	Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
title_sort	moebius and kallmann syndromes with diabetes insipidus: a phenotype of fibroblast growth factor (fgf) 8 mutation
publisher	Malaysian Endocrine and Metabolic Society
publishDate	2014
url	http://irep.iium.edu.my/50104/ http://irep.iium.edu.my/50104/ http://irep.iium.edu.my/50104/1/98-385-1-PB.pdf
first_indexed	2023-09-18T21:10:48Z
last_indexed	2023-09-18T21:10:48Z
_version_	1777411239048118272

Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation

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