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46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

1
Pediatric Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, 40138 Bologna, Italy
2
Genetic Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, 40138 Bologna, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(18), 4605; https://doi.org/10.3390/ijms20184605
Received: 3 September 2019 / Revised: 12 September 2019 / Accepted: 13 September 2019 / Published: 17 September 2019
(This article belongs to the Special Issue Molecular Aspects of Sex Development in Mammals: New Insight)
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. View Full-Text
Keywords: 46,XX DSD; 21-hydroxylase deficiency; 11-hydroxylase deficiency; 3β-hydroxysteroid dehydrogenase deficiency; aromatase deficiency; POR deficiency; androgen excess 46,XX DSD; 21-hydroxylase deficiency; 11-hydroxylase deficiency; 3β-hydroxysteroid dehydrogenase deficiency; aromatase deficiency; POR deficiency; androgen excess
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Baronio, F.; Ortolano, R.; Menabò, S.; Cassio, A.; Baldazzi, L.; Di Natale, V.; Tonti, G.; Vestrucci, B.; Balsamo, A. 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features. Int. J. Mol. Sci. 2019, 20, 4605.

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