Literature DB >> 2248513

5 alpha-reductase deficiency without hypospadias.

W K Ng1, N F Taylor, I A Hughes, J Taylor, P G Ransley, D B Grant.   

Abstract

A boy aged 4 with penoscrotal hypospadias and his brother aged 12 with micropenis had typical changes of homozygous 5 alpha-reductase deficiency. After three injections of chorionic gonadotrophin there was a trivial rise in plasma dihydrotestosterone with a normal increase in plasma testosterone. Urine steroid chromatography showed abnormally high 5 beta: 5 alpha ratios and 5 alpha-reductase activity was appreciably reduced in genital skin fibroblasts. The results indicate that 5 alpha-reductase deficiency is not invariably associated with genital ambiguity.

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Year:  1990        PMID: 2248513      PMCID: PMC1792348          DOI: 10.1136/adc.65.10.1166

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  6 in total

1.  Studies of the androgen receptor in dispersed fibroblasts: investigation of patients with androgen insensitivity.

Authors:  B A Evans; T R Jones; I A Hughes
Journal:  Clin Endocrinol (Oxf)       Date:  1984-01       Impact factor: 3.478

2.  Abnormal steroid excretion in gestational trophoblastic disease complicated by ovarian theca-lutein cysts.

Authors:  B R Bevan; M Savvas; J M Jenkins; K Baker; G W Pennington; N F Taylor
Journal:  J Clin Pathol       Date:  1986-06       Impact factor: 3.411

3.  Characterization of the testicular abnormality in 5 alpha-reductase deficiency.

Authors:  L Johnson; F W George; W B Neaves; I M Rosenthal; R A Christensen; A Decristoforo; H U Schweikert; M V Sauer; M Leshin; J E Griffin
Journal:  J Clin Endocrinol Metab       Date:  1986-11       Impact factor: 5.958

4.  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

5.  Augmentation of androgen-receptor binding in vitro: studies in normals and patients with androgen insensitivity.

Authors:  B A Evans; I A Hughes
Journal:  Clin Endocrinol (Oxf)       Date:  1985-11       Impact factor: 3.478

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

Authors:  S A Ivarsson; M D Nielsen; T Lindberg
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

  6 in total
  8 in total

1.  Pituitary-gonadal axis in male undermasculinisation.

Authors:  K L Ng; S F Ahmed; I A Hughes
Journal:  Arch Dis Child       Date:  2000-01       Impact factor: 3.791

Review 2.  Penile agenesis: an unusual variant.

Authors:  S R Choudhury; B P Maji
Journal:  Int Urol Nephrol       Date:  1993       Impact factor: 2.370

3.  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

4.  5 alpha-reductase deficiency in patients with micropenis.

Authors:  Y Z Gad; H Nasr; I Mazen; N Salah; R el-Ridi
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

5.  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

6.  5α-Reductase Isozymes in the Prostate.

Authors:  Yuan-Shan Zhu; Guang-Huan Sun
Journal:  J Med Sci       Date:  2005

7.  Male pseudohermaphroditism due to primary 5 alpha-reductase deficiency: variation in gender identity reversal in seven Mexican patients from five different pedigrees.

Authors:  J P Méndez; A Ulloa-Aguirre; J Imperato-McGinley; A Brugmann; M Delfin; B Chávez; C Shackleton; S Kofman-Alfaro; G Pérez-Palacios
Journal:  J Endocrinol Invest       Date:  1995-03       Impact factor: 4.256

8.  Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study.

Authors:  Xiu Zhao; Yanning Song; Shaoke Chen; Xiumin Wang; Feihong Luo; Yu Yang; Linqi Chen; Ruimin Chen; Hui Chen; Zhe Su; Di Wu; Chunxiu Gong
Journal:  Front Pharmacol       Date:  2019-03-15       Impact factor: 5.810

  8 in total

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