Molecular Analysis of the AR and SRD5A2 Genes in Patients with 46,XY Disorders of Sex Development
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Jin-Ho Choi
Abstract
The aim of this study was to assess the clinical and endocrinological features, and to analyze AR and SRD5A2 genes in patients with 46,XY disorders of sex development (DSD). This study included 20 patients from 19 families showing clinical features of 46,XY DSD. Molecular analysis was performed of the AR and SRD5A2 genes, as well as endocrinological evaluations, such as 17a-hydroxyprogesterone, plasma renin activity, aldosterone, adrenocorticotropic hormone and hCG stimulation test. Out of 20 patients with 46,XY DSD, only one (5%) displayed androgen insensitivity syndrome (AIS), and four (20%) were Sa-reductase deficient by mutation analysis. The patient with AIS revealed significant elevation of serum testosterone following hCG stimulation. The patient with Sa-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. The patient with p.Q6X/p.R246Q mutations showed a moderately elevated testosterone/ dihydrotestosterone ratio following hCG stimulation. Endocrinological tests are not reliable for the etiological diagnosis of AIS and Sa-reductase deficiency due to variable reference ranges of hormonal profiles according to the age and the severity of the enzyme defect. DNA analysis may be employed as a tool for the early and precise diagnosis of patients with 46,XY DSD, and genetic counseling can be used for families at risk.
© 2020 by Walter de Gruyter Berlin/Boston
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Articles in the same Issue
- TITLE
- TABLE OF CONTENTS
- EDITORIAL. Why the Consensus for Consensus?
- REVIEW. Translating Transition: A Critical Review of the Diabetes Literature
- SOCIETY NEWS. VanWyk Award Acceptance Speech, May 5, 2008
- IMAGES IN PEDIATRIC ENDOCRINOLOGY. Pseudopuberty and Juvenile Hypothyroidism
- ORIGINAL CONTRIBUTIONS
- Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria
- An Analysis of Predictive Factors for the Conversion from Premature Thelarche into Complete Central Precocious Puberty
- Propylthiouracil Associated Antineutrophil Cytoplasmic Antibodies (ANCA) in Patients with Childhood Onset Graves' Disease
- Molecular Analysis of the AR and SRD5A2 Genes in Patients with 46,XY Disorders of Sex Development
- Efficacy and Safety of Inhaled Human Insulin (Exu hera®) Compared to Subcutaneous Insulin in Children Ages 6 to 11 Years with Type 1 Diabetes Mellitus: Results of a 3-Month, Randomized, Parallel Trial
- Usefulness of Growth Hormone (GH) Stimulation Tests and IGF-1 Concentration Measurement in GH Deficiency Diagnosis
- Hyperglycemia and Hypoinsulinemia in Patients with Fanconi-Bickel Syndrome
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- Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm the Diagnosis
- Clinical and Laboratory Findings of Two Newborns with Wiedemann-Rautenstrauch Syndrome: Additional Features, Evaluation of Bone Turnover and Review of the Literature
- Congenital Nephrotic Syndrome and Persistent Hypothyroidism After Bilateral Nephrectomy
- LETTER TO THE EDITOR
- Re: Relationship between endothelial dysfunction, carotid artery intima media thickness and circulating markers of vascular inflammation in obese hypertensive children and adolescents (J Pediatr Endocrinol Metab 2007; 20: 1125-1136)
- The Incidence of Glucose Disorders Related to Cystic Fibrosis Could Be Higher with Current Criteria (Re: Carbohydrate Metabolism Changes in Cystic Fibrosis. J Pediatr Endocrinol Metab 2007; 20: 621-663)
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