46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features
| Autor: | Soara Menabo, Valeria Di Natale, Federico Baronio, Benedetta Vestrucci, Antonio Balsamo, Alessandra Cassio, Rita Ortolano, Lilia Baldazzi, Giacomo Tonti |
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| Přispěvatelé: | Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
46 XX Disorders of Sex Development Inheritance Patterns Review Androgen Excess Androgen lcsh:Chemistry Human reproduction 0302 clinical medicine POR deficiency 46 XX DSD lcsh:QH301-705.5 Spectroscopy Allele medicine.diagnostic_test 3β-hydroxysteroid dehydrogenase deficiency General Medicine POR Deficiency Phenotype Computer Science Applications Androgens Steroids Metabolic Networks and Pathways Human medicine.medical_specialty 030209 endocrinology & metabolism 21-hydroxylase deficiency Genetic Association Studie Biology 46 XX DSD Catalysis Gene Expression Regulation Enzymologic Inorganic Chemistry 03 medical and health sciences Androgen exce Internal medicine medicine Humans Genetic Predisposition to Disease Genetic Testing Physical and Theoretical Chemistry Molecular Biology Steroid Alleles Genetic Association Studies Genetic testing Inheritance Pattern Organic Chemistry Hyperandrogenism Aromatase deficiency Metabolic Networks and Pathway Biomarker medicine.disease 030104 developmental biology Endocrinology lcsh:Biology (General) lcsh:QD1-999 11-hydroxylase deficiency androgen excess Biomarkers |
| Zdroj: | International Journal of Molecular Sciences, Vol 20, Iss 18, p 4605 (2019) International Journal of Molecular Sciences |
| Popis: | The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, or anatomical sex. Disorders of steroidogenesis comprise autosomal recessive conditions that affect adrenal and gonadal enzymes and are responsible for some conditions of 46,XX DSD where hyperandrogenism interferes with chromosomal and gonadal sex development. Congenital adrenal hyperplasias (CAHs) are disorders of steroidogenesis that mainly involve the adrenals (21-hydroxylase and 11-hydroxylase deficiencies) and sometimes the gonads (3-beta-hydroxysteroidodehydrogenase and P450-oxidoreductase); in contrast, aromatase deficiency mainly involves the steroidogenetic activity of the gonads. This review describes the main genetic, biochemical, and clinical features that apply to the abovementioned conditions. The activities of the steroidogenetic enzymes are modulated by post-translational modifications and cofactors, particularly electron-donating redox partners. The incidences of the rare forms of CAH vary with ethnicity and geography. The elucidation of the precise roles of these enzymes and cofactors has been significantly facilitated by the identification of the genetic bases of rare disorders of steroidogenesis. Understanding steroidogenesis is important to our comprehension of differences in sexual development and other processes that are related to human reproduction and fertility, particularly those that involve androgen excess as consequence of their impairment. |
| Databáze: | OpenAIRE |
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