Literature DB >> 3409930

Male pseudohermaphroditism due to 5 alpha-reductase deficiency in a Swedish family.

S A Ivarsson1, M D Nielsen, T Lindberg.   

Abstract

Three sibs with an inherited form of male pseudohermaphroditism are described. They were all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was made during childhood. First seen at the ages of 16, 14 and 10 years respectively, they were investigated in order to establish the pathogenetic nature of the disorder. Serum concentrations of testosterone and dihydrotestosterone before and after stimulation with human chorionic gonadotropin suggested 5 alpha-reductase deficiency. Measurement of steroid metabolites in urine confirmed this diagnosis. It is essential to recognize this condition in order to decide the sex of rearing of the children.

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Year:  1988        PMID： 3409930     DOI： 10.1007/bf00441984

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

1.  Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias.

Authors:  P C Walsh; J D Madden; M J Harrod; J L Goldstein; P C MacDonald; J D Wilson
Journal:  N Engl J Med       Date:  1974-10-31       Impact factor: 91.245

2.  Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity.

Authors:  J R Givens; W L Wiser; R L Summitt; I J Kerber; R N Andersen; D E Pittaway; S A Fish
Journal:  N Engl J Med       Date:  1974-10-31       Impact factor: 91.245

3.  Pseudovaginal perineoscrotal hypospadias.

Authors:  J M Opitz; J L Simpson; G E Sarto; R L Summitt; M New; J German
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

4.  Decreased urinary C19 and C21 steroid 5 alpha-metabolites in parents of male pseudohermaphrodites with 5 alpha-reductase deficiency: detection of carriers.

Authors:  J Imperato-McGinley; R E Peterson; T Gautier; A Arthur; C Shackleton
Journal:  J Clin Endocrinol Metab       Date:  1985-03       Impact factor: 5.958

5.  Use of Sep-pak cartridges for urinary steroid extraction: evaluation of the method for use prior to gas chromatographic analysis.

Authors:  C H Shackleton; J O Whitney
Journal:  Clin Chim Acta       Date:  1980-11-06       Impact factor: 3.786

6.  Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency.

Authors:  R E Peterson; J Imperato-McGinley; T Gautier; E Sturla
Journal:  Am J Med       Date:  1977-02       Impact factor: 4.965

7.  Simultaneous estimation of urinary steroids by semi-automated gas chromatography. Investigation of neo-natal infants and children with abnormal steroid synthesis.

Authors:  C H Shackleton; J W Honour
Journal:  Clin Chim Acta       Date:  1976-06-01       Impact factor: 3.786

8.  Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency.

Authors:  R E Peterson; J Imperato-McGinley; T Gautier; C Shackleton
Journal:  Clin Endocrinol (Oxf)       Date:  1985-07       Impact factor: 3.478

9.  Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role.

Authors:  A Rösler; G Kohn
Journal:  J Steroid Biochem       Date:  1983-07       Impact factor: 4.292

10.  Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism.

Authors:  J Imperato-McGinley; L Guerrero; T Gautier; R E Peterson
Journal:  Science       Date:  1974-12-27       Impact factor: 47.728
  10 in total
  7 in total

1.  5 alpha-reductase deficiency without hypospadias.

Authors:  W K Ng; N F Taylor; I A Hughes; J Taylor; P G Ransley; D B Grant
Journal:  Arch Dis Child       Date:  1990-10       Impact factor: 3.791

2.  5-alpha reductase deficient men are fertile.

Authors:  S A Ivarsson
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

Review 3.  The effect of 5α-reductase-2 deficiency on human fertility.

Authors:  Hey-Joo Kang; Julianne Imperato-McGinley; Yuan-Shan Zhu; Zev Rosenwaks
Journal:  Fertil Steril       Date:  2014-01-08       Impact factor: 7.329

4.  Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency.

Authors:  O Hiort; H Willenbring; N Albers; W Hecker; J Engert; L Dibbelt; G H Sinnecker
Journal:  Eur J Pediatr       Date:  1996-06       Impact factor: 3.183

5.  Finasteride. Does it affect spermatogenesis and pregnancy?

Authors:  M Pole; G Koren
Journal:  Can Fam Physician       Date:  2001-12       Impact factor: 3.275

6.  Male pseudohermaphroditism due to 5 alpha-reductase-2 deficiency in an Arab kindred.

Authors:  H M al-Attia
Journal:  Postgrad Med J       Date:  1997-12       Impact factor: 2.401

Review 7.  Challenges in Testosterone Measurement, Data Interpretation, and Methodological Appraisal of Interventional Trials.

Authors:  Landon W Trost; John P Mulhall
Journal:  J Sex Med       Date:  2016-05-18       Impact factor: 3.802
  7 in total

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