Male pseudohermaphroditism caused by mutations of testicular 17β–hydroxysteroid dehydrogenase 3

1994 ◽  
Vol 7 (1) ◽  
pp. 34-39 ◽  
Author(s):  
Wayne M. Geissler ◽  
Daphne L. Davis ◽  
Ling Wu ◽  
Karen D. Bradshaw ◽  
Sushma Patel ◽  
...  
Keyword(s):  
Hydroxysteroid Dehydrogenase ◽  
Male Pseudohermaphroditism

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

1986 ◽  
Vol 112 (2) ◽  
pp. 238-246 ◽  
Author(s):  
David J. Gross ◽  
Hedi Landau ◽  
Gertrude Kohn ◽  
Amicur Farkas ◽  
Eyas Elrayyes ◽  
...  
Keyword(s):  
Gender Role ◽  
Positive Family History ◽  
Hydroxysteroid Dehydrogenase ◽  
Male Gender ◽  
Skeletal Maturation ◽  
Height Velocity ◽  
Male Pseudohermaphroditism ◽  
Arab Population ◽  
Gender Reassignment ◽  
Male Gender Role

Abstract. Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase (17β-HSD) deficiency has a high prevalence within the Arab population of the Gaza strip and is characterised by marked virilization at puberty, leading in many cases to the spontaneous adoption of a male gender role. As a result of this, parents of 7 affected male infants (aged 1– 10 months) born with female phenotype requested early gender reassignment. Diagnosis was suspected in 5 on the basis of a positive family history, but confirmed in all cases by the finding of low to normal testosterone levels (30–184 ng/dl) with high Δ4-androstenedione levels (188–808 ng/dl), after hCG. Treatment with im testosterone oenanthate (25–50 mg/dose) was given in one to three 3-months courses and penile size was increased into the normal range without evoking a significant increase in height velocity or skeletal maturation. Five patients underwent the first stage of male genitoplasty between 2 and 3 years of age. This consisted of bilateral orchidopexy, chordee release and penile lengthening – yielding finally an anatomically normal-sized and shaped penis. Androgen responsive male pseudohermaphroditism due to 17β-HSD deficiency or a similar defect and diagnosed in infancy should be treated as soon as possible with systemic testosterone before considering any sex change, and in preparation for male genitoplasty. Early gender reassignment according to genetic and gonadal sex is probably the management of choice for these cases since this may result in a normal adjustment to the male gender role, particularly after puberty.

Male pseudohermaphroditism due to nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency: Gender role change and absence of gynecomastia at puberty

1987 ◽  
Vol 28 (6) ◽  
pp. 669-675 ◽  
Author(s):  
Berenice B. Mendonca ◽  
Walter Bloise ◽  
Ivo Jorge Prado Arnhold ◽  
Marcelo Cidade Batista ◽  
Sergio Pereira De Almeida Toledo ◽  
...  
Keyword(s):  
Gender Role ◽  
Dehydrogenase Deficiency ◽  
Hydroxysteroid Dehydrogenase ◽  
Male Pseudohermaphroditism ◽  
Role Change

Steroid metabolism by a tumour of the specific gonadal stroma in a child

1982 ◽  
Vol 99 (4) ◽  
pp. 624-629 ◽  
Author(s):  
Alicia Barmach de Niepomniszcze ◽  
Marco A. Rivarola ◽  
Héctor E. Chemes ◽  
César Bergadá
Keyword(s):  
Leydig Cell ◽  
Sertoli Cells ◽  
Sexual Development ◽  
Cell Function ◽  
Hydroxysteroid Dehydrogenase ◽  
Steroid Metabolism ◽  
Male Pseudohermaphroditism ◽  
Testosterone Biosynthesis ◽  
Pubertal Boys ◽  
Leydig Cell Function

Abstract. A study of steroid metabolism by a tumour of the specific gonadal stroma was carried out in a 10 year old boy. Tumours developed in the two testes from multiple foci, and clinically, no signs of sexual development were evident. Four testicular enzymes necessary for testosterone biosynthesis were estimated in the child, in two adult controls, and in three pre-pubertal boys with male pseudohermaphroditism but normal tests of Leydig cell function. 17α-Hydroxylase and 17β-hydroxysteroid dehydrogenase were similar in the five controls and in the gonad with the tumour, while 17,20-desmolase and 3β-hydroxysteroid dehydrogenase were grossly deficient in the child with the tumour. These enzyme deficiencies might explain the absence of peripheral virilization in a boy with a tumour of Leydig and Sertoli cells.

Male Pseudohermaphroditism Due to Testicular 17β-Hydroxysteroid Dehydrogenase Deficiency1

1973 ◽  
Vol 36 (5) ◽  
pp. 867-879 ◽  
Author(s):  
UWE GOEBELSMANN ◽  
RICHARD HORTON ◽  
JORGE H. MESTMAN ◽  
JUAN J. ARCE ◽  
YUKIHIRO NAGATA ◽  
...  
Keyword(s):  
Hydroxysteroid Dehydrogenase ◽  
Male Pseudohermaphroditism
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