Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy

DJ Gross, H Landau, G Kohn, A Farkas… - European Journal of …, 1986 - academic.oup.com
Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase (17β-HSD)
deficiency has a high prevalence within the Arab population of the Gaza strip and is …

17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo  …

ALM Boehmer, AO Brinkmann… - The Journal of …, 1999 - academic.oup.com
17β-Hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive
form of male pseudohermaphroditism caused by mutations in the HSD17B3 gene. In a …

A case of 3β-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in …

A Nordenström, MG Forest, A Wedell - Hormone research, 2007 - karger.com
Background: 3β-Hydroxysteroid dehydrogenase type II deficiency, a rare form of congenital
adrenal hyperplasia, is characterized by varying degrees of salt loss and incomplete …

Consequences of steroid-5α-reductase deficiency and inhibition in vertebrates

J Robitaille, VS Langlois - General and comparative endocrinology, 2020 - Elsevier
In 1974, a lack of 5α-dihydrotestosterone (5α-DHT), the most potent androgen across
species except for fish, was shown to be the origin of a type of pseudohermaphrodism in …

Male psuedohermaphroditism caused by nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency

UE Heinrich, M Bettendorf, P Vecsei - The Journal of Steroid Biochemistry …, 1993 - Elsevier
We observed a boy with ambiguous genitalia and normal testes. Steroid analyses performed
during newborn age surprisingly were inconclusive basally and after hCG stimulation, but …

17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings

MD Omrani, T Adamovic, U Grandell… - Sexual …, 2012 - karger.com
β-hydroxysteroid dehydrogenase type 3 (17-β-HSD 3) deficiency is an autosomal recessive
form of 46, XY disorder of sex development (DSD). To date, a total of 27 HSD17B3 gene …

The identification of 5α-reductase-2 and 17β-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred

S Can, YS Zhu, LQ Cai, Q Ling, MD Katz… - The Journal of …, 1998 - academic.oup.com
Male pseudohermaphroditism (MPH) is characterized by incomplete differentiation of male
genitalia in the presence of testicular tissue. Enzymatic defects involving androgen synthesis …

Partial 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency in a family with congenital adrenal hyperplasia: evidence for increasing 3β-HSD activity with age

FM Kenny, JW Reynolds, OC Green - Pediatrics, 1971 - publications.aap.org
In the siblings reported, two affected boys have perineal hypospadias and bifid scrotum, and
two affected girls have slight clitoral enlargement with otherwise normal genitalia. All are …

5α-Reductase-2 deficiency and complete androgen insensitivity: lessons from nature

J Imperato-McGinley - Pediatric gender assignment: A critical reappraisal, 2002 - Springer
The importance of the hormones testosterone and dihydrotestosterone in the male is best
illustrated by studies of the inherited condition of male pseudohermaphroditism due to 5a …

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46, XY disorders of sex …

N Phelan, EL Williams, S Cardamone… - European journal of …, 2015 - academic.oup.com
Context and objective The precise diagnosis of partially virilised women with 46, XY
disorders of sex development (DSD) is often obscure. In practice, this group often comes …