Document Detail

CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation.
MedLine Citation:
PMID:  20860631     Owner:  NLM     Status:  MEDLINE    
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.
Luca Foppiani; A Maffè; F Forzano
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Andrologia     Volume:  42     ISSN:  1439-0272     ISO Abbreviation:  Andrologia     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-23     Completed Date:  2011-01-10     Revised Date:  2013-02-11    
Medline Journal Info:
Nlm Unique ID:  0423506     Medline TA:  Andrologia     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  326-30     Citation Subset:  IM    
Copyright Information:
© 2010 Blackwell Verlag GmbH.
Endocrinology, Galliera Hospital, Genova, Italy.
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MeSH Terms
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
Frameshift Mutation
Hypogonadism / etiology*
Osteoporosis / diagnosis,  drug therapy,  etiology
Pituitary Gland / physiopathology
Quality of Life
Testosterone / therapeutic use
Vitamin D / therapeutic use
Reg. No./Substance:
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 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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