The Dilemma of Sex Reassignment in an Adolescent with 17β-HSD-3 Deficiency Raised as a Female: Ten-Year Follow-Up
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A number of patients with defective differentiation of the genital system, described in the literature by various terminologies (Dacou-Voutetakis, 2007; Hughes et al., 2006), wish to have sex reassignment in adolescence or adulthood.
One of the disorders prompting the request for sex reassignment after childhood is the deficiency of 17β-hydroxysteroid dehydrogenase-3 (17β-HSD-3) caused by mutations in the HSD17B3 gene. The enzyme 17β-HSD-3 is involved in the terminal phase of testicular steroidogenesis and specifically catalyzes the conversion of androstenedione (A) to testosterone (T). Persons with this defect have near-normal or ambiguous female external genitalia at birth due to the absence of testosterone and dihydrotestosterone when the external genitalia differentiate (Gooren, 2002). Individuals with 17β-HSD-3 deficiency are considered as females and are raised as girls. At puberty, however, they become virilized as a result of an increase in T and dihydrotestosterone levels due...
KeywordsHypospadias Tanner Stage External Genitalia Gender Reassignment HSD17B3 Gene
We would like to express our appreciation to Professor H. Morel for the molecular study.
- Meyer-Bahlburg, H. F. L. (2002). Gender assignment and reassignment in intersexuality: Controversies, data and guidelines for research. Advances in Experimental Biology and Medicine, 511, 199–223.Google Scholar
- Wechsler, D. (1981). Manual for the Wechsler Adult Intelligence Scale—Revised. San Antonio, TX: Psychological Corporation.Google Scholar