Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene

@article{Rhaume1992CongenitalAH,
  title={Congenital adrenal hyperplasia due to point mutations in the type II 3$\beta$–hydroxysteroid dehydrogenase gene},
  author={{\'E}ric Rh{\'e}aume and Jacques Simard and Yves Morel and Farida M{\'e}barki and Milo Zachmann and Maguelone G. Forest and Maria I. New and Fernand Labrie},
  journal={Nature Genetics},
  year={1992},
  volume={1},
  pages={239-245}
}
Classical 3β–hydroxysteroid dehydrogenase /Δ5–Δ4–isomerase (3β–HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads. We describe the nucleotide sequence of the two highly homologous genes encoding 3β–HSD isoenzymes in three classic 3β–HSD deficient patients belonging to two apparently unrelated pedigrees. No mutation was detected in the type I 3β–HSD gene, which is mainly… Expand
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
TLDR
The nucleotide sequence of DNA fragments generated by selective polymerase chain reaction amplification that span the four exons, the exon-intron boundaries, as well as the 5'-flanking region of each of the two 3 beta-HSD genes have been determined in three male pseudohermaphrodite 3 beta -HSD deficient patients from unrelated families. Expand
A New Insight Into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency
TLDR
Results from functional charaterization studies of the mutant proteins agrees with the prediction that no functional type II 3β-HSD isoenzyme is expressed in the adrenals and gonads of the patients with the severe salt-losing form, whereas the nonsalt-l losing form causes an incomplete loss in enzymatic activity, thereby leaving sufficient enzymatically activity to prevent salt loss. Expand
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation
TLDR
It is argued that in a girl with glucocorticoid and mineralocortICoid deficiency without virilization, 3β-HSD II deficiency is an important differential diagnosis and 17OH-progesterone may initially be elevated due to placental and peripheral activity of 3 β- HSD I, whereas dehydroepiandrosterone may not be increased. Expand
Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.
TLDR
Molecular homology modeling of normal and mutant 3β-HSD2 enzymes emphasizes codon 222 as an important residue for the folding pattern of the enzyme and validates a suitable model for analysis of new mutations. Expand
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency
TLDR
Knowledge is mainly based on case reports but many long-term outcomes could be presumed to be similar to other types of CAH, mainly 21-hydroxylase deficiency, although in 3βHSD2D it seems to be more difficult to suppress the androgens. Expand
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
TLDR
The results indicate that the genital phenotype in 3beta-HSD deficiency cannot be predicted from in vitro 3 beta- HSD function alone and three novel C-terminal mutants of the HSD3B2 gene are responsible for classical 3 Beta-HSd deficiency. Expand
Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency.
  • S. Pang
  • Medicine
  • Endocrinology and metabolism clinics of North America
  • 2001
TLDR
The delta-5 steroid abnormality for the nonclassic 3 beta-HSD deficiency CAH, proven by genotype study, is substantially greater than the hormonal criteria for the disorder published before the advent of molecular information on the gene encoding adrenals and gonads in humans. Expand
Mutations in the type II 3β‐hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls
TLDR
The HSD3B2 gene is screened for mutations in girls with premature pubarche and a hormonal diagnosis of 3β‐hydroxysteroid dehydrogenase deficiency and it is found that mutations in the type II 3β hydroxysteroid dehydration gene are not the cause of this disorder. Expand
Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency
TLDR
The finding of a normal type I 3 beta-HSD gene provides the explanation for the intact peripheral intracrine steroidogenesis in these patients and increased androgen manifestations at puberty. Expand
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
TLDR
This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency, should improve counselling about fertility of male patients carrying HSD3B2 mutation. Expand
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TLDR
The present findings should provide the tools required for detailed analysis of the molecular basis of 3 beta-HSD deficiency as well as of normal sex steroid biosynthesis. Expand
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TLDR
Using in situ hybridization, it is reported that hybridization with labeled human HSDB3-specific cDNA yielded 27% of silver grains associated with chromosome 1 with a maximal concentration in the p13 band. Expand
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TLDR
Congenital adrenal hyperplasia is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants and a deficiency of 11-hydroxylase or of 3-beta-hydroxysteroid dehydrogenase (3-β-HSD) is diagnosed by the finding of elevated serum concentrations of11-deoxycortisol or 17-Hydroxypregnenolone. Expand
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TLDR
In this review, HSD deficiency has been presented as one distinct cause and its diagnosis as described in the report by Rosenfield and his co-workers depends upon several features. Expand
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The results verify the existence of at least two 5α-reductases in man and provide insight into a fundamental hormone-mediated event in male sexual differentiation. Expand
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TLDR
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TLDR
The patient shows some unusual features compared to the classic description of the syndrome: the external genitalia are normal, the predominant 17-ketosteroid was androsterone and not dehydroepiandrosterone, and pregnanetriol was present. Expand
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TLDR
Partial deficiency of Δ5–3βhydroxysteroid dehydrogenase (3β-ol) was found in a 17-yr-old female with acne, male-pattern hirsutism,male- pattern hirsUTism, and primary amenorrhea, and clitoromegaly was found. Expand
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TLDR
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