RGD Reference Report - Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. - Rat Genome Database

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Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.

Authors: Codner, E  Okuma, C  Iniguez, G  Boric, MA  Avila, A  Johnson, MC  Cassorla, FG 
Citation: Codner E, etal., J Clin Endocrinol Metab. 2004 Feb;89(2):957-64.
RGD ID: 1625114
Pubmed: PMID:14764821   (View Abstract at PubMed)
DOI: DOI:10.1210/jc.2002-020873   (Journal Full-text)

To determine whether some patients with idiopathic hypospadias have HSD3B2 mutations, we genotyped this locus in 90 patients with hypospadias (age, 6.0 +/- 0.4 yr) and 101 healthy fertile male controls. We measured basal plasma renin activity and performed an ACTH test for determination of 17-OH-pregnenolone, 17-OH-progesterone, cortisol, dehydroepiandrosterone sulfate, and androstenedione and an human chorionic gonadotropin test for determination of androstenedione, testosterone, and dihydrotestosterone. We did not observe a clear steroidogenic pattern suggestive of 3 beta-HSD deficiency in any patient. DNA was extracted from peripheral lymphocytes; and exons 1, 2, 3, and 4 were amplified by PCR and analyzed by denaturing gradient gel electrophoresis. An abnormal electrophoretic migration pattern of exon 4 was observed in five patients. Two patients had missense heterozygous mutations (S213T and S284R). In another three patients, we observed heterozygous nucleotide variants in exon 4 that did not produce a change in amino acids (A238, T259, T320). In vitro enzymatic activity was diminished by 40% and 32% in the S213T and S284R heterozygous mutations, respectively. One control exhibited a heterozygous mutation in exon 3 (V78I), which did not alter in vitro enzyme activity. In addition, we observed possible polymorphisms in intron 1 in four patients and one control. We conclude that subtle molecular abnormalities in the HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias but that this finding is uncommon.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hypospadias  IAGP 1625114DNA:point mutation:CDS:heterozygous S213T or S284R and result in decreased enzyme activityRGD 
hypospadias  ISOHSD3B2 (Homo sapiens)1625114; 1625114DNA:point mutation:CDS:heterozygous S213T or S284R and result in decreased enzyme activityRGD 

Objects Annotated

Genes (Rattus norvegicus)
Hsd3b1  (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)

Genes (Mus musculus)
Hsd3b1  (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)

Genes (Homo sapiens)
HSD3B2  (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)


Additional Information