| A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. | |
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MedLine Citation:
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PMID: 17308433 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died soon after birth. A third uncle failed to thrive during infancy but improved with a course of cortisone, then being untreated until further investigation revealed adrenal insufficiency. A fourth uncle died aged 10 days, with urinary salt loss and hypoplastic adrenal glands at postmortem. Molecular studies on the proband, his mother, maternal grandmother, and surviving uncle showed a novel C to G substitution at nucleotide position 794 (missense mutation T265R) in the DAX1 (NR0B1) gene. The proband has responded well to steroid replacement but has proved sensitive to 9alpha-fludrocortisone treatment, developing hypertension on a dose of 133 microg/m(2)/day. At 8.8 years he was noted to have testicular volumes of 4 ml, despite no other evidence of secondary sexual development and prepubertal gonadotrophin levels. Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on 'standard' doses of 9alpha-fludrocortisone and mild testicular enlargement. |
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Authors:
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Imran Ahmad; Wendy F Paterson; Lin Lin; Peter Adlard; Philippa Duncan; John Tolmie; John C Achermann; Malcolm D C Donaldson |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2007-02-16 |
Journal Detail:
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Title: Hormone research Volume: 68 ISSN: 1423-0046 ISO Abbreviation: Horm. Res. Publication Date: 2007 |
Date Detail:
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Created Date: 2007-06-08 Completed Date: 2007-08-13 Revised Date: 2013-02-19 |
Medline Journal Info:
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Nlm Unique ID: 0366126 Medline TA: Horm Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 32-7 Citation Subset: IM |
Copyright Information:
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Copyright 2007 S. Karger AG, Basel. |
Affiliation:
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Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Glands
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abnormalities*,
physiopathology Adrenal Insufficiency / congenital*, drug therapy, physiopathology Animals Anti-Inflammatory Agents / therapeutic use Child, Preschool Cortisone / adverse effects, analogs & derivatives DAX-1 Orphan Nuclear Receptor DNA Mutational Analysis DNA-Binding Proteins / genetics*, physiology Genetic Diseases, X-Linked / drug therapy, physiopathology* Humans Hydrocortisone / therapeutic use Male Mutation, Missense Pedigree Receptors, Retinoic Acid / genetics*, physiology Repressor Proteins / genetics*, physiology Testis / physiopathology* |
| Grant Support | |
ID/Acronym/Agency:
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079666//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Anti-Inflammatory Agents; 0/DAX-1 Orphan Nuclear Receptor; 0/DNA-Binding Proteins; 0/NR0B1 protein, human; 0/Receptors, Retinoic Acid; 0/Repressor Proteins; 50-23-7/Hydrocortisone; 53-06-5/Cortisone; 79-60-7/9-fluorocortisone |
| Comments/Corrections | |
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