| CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation. | |
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MedLine Citation:
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PMID: 20860631 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies (CHARGE) syndrome is a genetic syndrome in which hypogonadism is a frequent feature. A causative mutation within the chromodomain helicase DNA-binding protein-7 gene, which plays an important role in the embryonic development, is present in 2/3 of affected patients. We describe the clinical, hormonal and molecular characteristics of a young man from Ecuador who was diagnosed as having CHARGE syndrome at an adult age. The patient showed several phenotypic features of the syndrome, associated with a prepubertal state and cryptorchidism; hypogonadotrophic hypogonadism with undetectable testosterone levels not responsive to hCG testing and severe osteoporosis were ascertained. Molecular evaluation of the CHD7 gene showed the novel frameshift truncating heterozygous mutation p.Tyr1046Glyfs*23 in exon 12. Magnetic resonance imaging revealed mild hypoplasia of the pituitary gland and hypoplasia of the posterior cranial fossa. Parenteral testosterone therapy led to sexual development over time and, in combination with diphophonate therapy and calcium-vitamin D supplementation, significantly improved bone mineralisation. Early proper hormonal treatment of hypogonadism in patients with complex genetic syndromes is important to achieve normal sexual maturation, improve quality of life and avoid significant comorbidities, such as osteoporosis. |
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Authors:
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Luca Foppiani; A Maffè; F Forzano |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Andrologia Volume: 42 ISSN: 1439-0272 ISO Abbreviation: Andrologia Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-23 Completed Date: 2011-01-10 Revised Date: 2013-02-11 |
Medline Journal Info:
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Nlm Unique ID: 0423506 Medline TA: Andrologia Country: Germany |
Other Details:
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Languages: eng Pagination: 326-30 Citation Subset: IM |
Copyright Information:
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© 2010 Blackwell Verlag GmbH. |
Affiliation:
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Endocrinology, Galliera Hospital, Genova, Italy. luca.foppiani@galliera.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult CHARGE Syndrome / complications, diagnosis*, drug therapy*, genetics Calcification, Physiologic / drug effects Calcium / therapeutic use Chorionic Gonadotropin / diagnostic use DNA Helicases / genetics DNA-Binding Proteins / genetics Dietary Supplements Diphosphonates / therapeutic use Drug Therapy, Combination Exons Frameshift Mutation Humans Hypogonadism / etiology* Male Osteoporosis / diagnosis, drug therapy, etiology Pituitary Gland / physiopathology Quality of Life Testosterone / therapeutic use Vitamin D / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Chorionic Gonadotropin; 0/DNA-Binding Proteins; 0/Diphosphonates; 1406-16-2/Vitamin D; 58-22-0/Testosterone; 7440-70-2/Calcium; EC 3.6.1.-/DNA Helicases; EC 3.6.4.12/CHD7 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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