17-beta-hydroxysteroid dehydrogenase deficiency
17-beta-hydroxysteroid dehydrogenase III deficiency is a rare disorder of sexual development affecting testosterone biosynthesis, which can produce impaired virilization (traditionally termed "male pseudohermaphroditism") of genetically male infants and children and excessive virilization of female adults.
In the Netherlands, 17-beta-hydroxysteroid dehydrogenase III deficiency is estimated to occur in 1:147,000 newborns.
17-beta-hydroxysteroid dehydrogenase III deficiency is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth; as a consequence of impaired male sexual differentiation in 46,XY individuals. Further investigations on ambiguous genitalia will eventually lead to findings of intersexuality. Severely impaired virilization (often complete absence of male sexual differentiation) can lead to development of female external genitalia. These children are raised as female, and their diagnosis is often discovered when there is absence of menarche (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, acne, male musculature etc). At careful examination, testis can often be found in the inguinal channel.
17-beta-hydroxysteroid dehydrogenase III deficiency is characterized biochemically by decreased levels of testosterone and increased levels of androstenedione as a result of the defect in conversion of androstenedione into testosterone. This leads to clinically important higher ratio of androstenedione to testosterone (A'dion/T) (see figure).
17-beta-hydroxysteroid dehydrogenase III deficiency is caused by mutations found in the 17Beta Hydroxysteroid dehydrogenase (17BHSD3) gene. 17BHSD3 deficiency is an autosomal recessive disorder.
- Andersson, S; Geissler, Wm; Wu, L; Davis, Dl; Grumbach, Mm; New, Mi; Schwarz, Hp; Blethen, Sl; Mendonca, Bb; Bloise, W; Witchel, Sf; Cutler, Gb, Jr; Griffin, Je; Wilson, Jd; Russel, Dw (January 1996). "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency". The Journal of clinical endocrinology and metabolism 81 (1): 130,6. doi:10.1210/jc.81.1.130. ISSN 0021-972X. PMID 8550739.
- Boehmer, A. L. M. (1999). "17 -Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations". Journal of Clinical Endocrinology & Metabolism 84: 4713. doi:10.1210/jc.84.12.4713. PMID 10599740.
- Lindqvist, A; Hughes, Ia; Andersson, S (February 2001). "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency" (Free full text). The Journal of clinical endocrinology and metabolism 86 (2): 921,3. doi:10.1210/jc.86.2.921. ISSN 0021-972X. PMID 11158067.
- OMIM 264300
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