Une déshydratation révélant un déficit en 3ßéta Hydroxystéroïde Déshydrogénase: à propos d'un cas

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Abstract

Le déficit en 3ßéta Hydroxystéroïde Déshydrogénase (3β HSD) est un désordre autosomique récessif rare touchant les voies de synthèse de tous les stéroïdes actifs dans les surrénales et les gonades. Cliniquement, il inclut, à des degrés variables, un syndrome de perte de sel et une hypomasculination des garçons. Ces dernières années, plusieurs avancées en matière de dosages hormonaux et de génétique ont été réalisées ce qui a permis de comprendre les bases moléculaires et le phénotype hormonal de ces patients. Nous exposons à travers un cas clinique les difficultés diagnostiques de ce déficit ainsi que la prise en charge thérapeutique.

Most cited references 16

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Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.

Jacques Simard, Marie-Louise Ricketts, Sebastien Gingras … (2005)

The 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase (3beta-HSD) isoenzymes are responsible for the oxidation and isomerization of Delta(5)-3beta-hydroxysteroid precursors into Delta(4)-ketosteroids, thus catalyzing an essential step in the formation of all classes of active steroid hormones. In humans, expression of the type I isoenzyme accounts for the 3beta-HSD activity found in placenta and peripheral tissues, whereas the type II 3beta-HSD isoenzyme is predominantly expressed in the adrenal gland, ovary, and testis, and its deficiency is responsible for a rare form of congenital adrenal hyperplasia. Phylogeny analyses of the 3beta-HSD gene family strongly suggest that the need for different 3beta-HSD genes occurred very late in mammals, with subsequent evolution in a similar manner in other lineages. Therefore, to a large extent, the 3beta-HSD gene family should have evolved to facilitate differential patterns of tissue- and cell-specific expression and regulation involving multiple signal transduction pathways, which are activated by several growth factors, steroids, and cytokines. Recent studies indicate that HSD3B2 gene regulation involves the orphan nuclear receptors steroidogenic factor-1 and dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome gene 1 (DAX-1). Other findings suggest a potential regulatory role for STAT5 and STAT6 in transcriptional activation of HSD3B2 promoter. It was shown that epidermal growth factor (EGF) requires intact STAT5; on the other hand IL-4 induces HSD3B1 gene expression, along with IL-13, through STAT 6 activation. However, evidence suggests that multiple signal transduction pathways are involved in IL-4 mediated HSD3B1 gene expression. Indeed, a better understanding of the transcriptional factors responsible for the fine control of 3beta-HSD gene expression may provide insight into mechanisms involved in the functional cooperation between STATs and nuclear receptors as well as their potential interaction with other signaling transduction pathways such as GATA proteins. Finally, the elucidation of the molecular basis of 3beta-HSD deficiency has highlighted the fact that mutations in the HSD3B2 gene can result in a wide spectrum of molecular repercussions, which are associated with the different phenotypic manifestations of classical 3beta-HSD deficiency and also provide valuable information concerning the structure-function relationships of the 3beta-HSD superfamily. Furthermore, several recent studies using type I and type II purified enzymes have elegantly further characterized structure-function relationships responsible for kinetic differences and coenzyme specificity.

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Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.

M Zachmann, E Rhéaume, Y Morel … (1992)

Classical 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-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 3 beta-HSD isoenzymes in three classic 3 beta-HSD deficient patients belonging to two apparently unrelated pedigrees. No mutation was detected in the type I 3 beta-HSD gene, which is mainly expressed in the placenta and peripheral tissues. Both nonsense and frameshift mutations, however, were found in the type II 3 beta-HSD gene, which is the predominant 3 beta-HSD gene expressed in the adrenals and gonads, thus providing the first elucidation of the molecular basis of this disorder.

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The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase.

Guillermina A. Bongiovanni (1962)

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Author and article information

Journal

Journal ID (nlm-ta): Pan Afr Med J

Journal ID (iso-abbrev): Pan Afr Med J

Journal ID (publisher-id): PAMJ

Title: The Pan African Medical Journal

Publisher: The African Field Epidemiology Network

ISSN (Electronic): 1937-8688

Publication date (Electronic): 17 February 2015

Publication date Collection: 2015

Volume: 20

Electronic Location Identifier: 141

Affiliations

[1 ]Département d ‘Endocrinologie, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc

[2 ]Departement d'Endocrinologie Pédiatrique, Faculté de Médecine, Université Mohammed V Souissi, Hopital d'Enfants, Rabat, Maroc

Author notes

[& ]Corresponding author: Hanane Latrech, Département d ‘Endocrinologie, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc

Article

Publisher ID: PAMJ-20-141

DOI: 10.11604/pamj.2015.20.141.5842

PMC ID: 4919669

PubMed ID: 27386019

SO-VID: 72096a08-425b-46c1-9cd0-61b50585d9b9

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The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Une déshydratation révélant un déficit en 3ßéta Hydroxystéroïde Déshydrogénase: à propos d'un cas Translated title: Dehydration revealing 3ßhydroxysteroid dehydrogenase deficiency: report of a case

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Abstract

Most cited references 16

Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.

Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.

The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase.

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