Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism

17β-Hydroxysteroid dehydrogenase-3 deficiency: A rare endocrine cause of male-to-female sex reversal

“…For example, the estimate of affected males in the Arab population of the Gaza Strip has been calculated to be 1/300 [17], but some indications suggest that the true incidence may be even higher and closer to 1/100 to 1/150 males [18].…”

“…The clitoris enlarges in size reaching 5-8 cm in length [12,16,18] but remains undersized as a penis and may be retracted by chordee [23]. Testis volume may increase to the lower range of normal adult males (12-15 ml) [12].…”

“…Following the original paper of Geissler and associates [8], several studies have identified Hsd17b3 gene mutations in patients affected by 17b-HSD3 deficiency [8][9][10][11]18,19,[28][29][30]; to date, a total of 23 mutations have been detected in different families from Europe, the Middle East, the USA and Brazil, and they are summarized in Figure 2 [3]. The majority are missense mutations, inherited as homozygous or compound heterozygous [3].…”

Treatment of Men with Paraphilia with a Long-Acting Analogue of Gonadotropin-Releasing Hormone

“…26 The bone mineral density of the femoral neck and the lumbar spine (L2 to L4) was determined by dual-energy x-ray absorptiometry (XR26, Norland Scientific Instruments, Fort Atkinson, Wis.). The respective coefficients of variation of the measurements of bone mineral density were 2 percent and 1 percent.…”

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

“…A recent literature review reported that female-to-male gender role change occurs frequently (39-64 %) but not invariably, usually in late adolescence or early adulthood [77,[159][160][161][162]. As in 5-alpha-reductase deficiency, in 17-beta-HSD-3 deficiency, there is not to date a clear relationship between the severity of the enzymatic defect and gender identity and why changes in gender role occur in some patients but not in others [77,[162][163][164][165][166][167]. Moreover, it has been suggested that unidentified pre-and postnatal factors, a better knowledge of the natural history of the disorder in some areas, and sociocultural issues may participate, all together, in influencing gender identity and role [77,161,163].…”