Literature DB >> 6989745

XY females with enzyme deficiencies of steroid metabolism. A brief review.

K Madan, J Schoemaker.   

Abstract

The literature on XY females with enzyme deficiencies (17 alpha-hydroxylase, 17 beta-reductase and 17, 20-desmolase) is reviewed. The main features of these individuals are briefly compared with those of XY females with pure gonadal dysgenesis and with testicular feminization.

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Year:  1980        PMID： 6989745     DOI： 10.1007/BF00287042

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  26 in total

1.  Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism.

Authors:  M Zachmann; J A Völlmin; W Hamilton; A Prader
Journal:  Clin Endocrinol (Oxf)       Date:  1972-10       Impact factor: 3.478

2.  A case of glucocorticoid-responsive hyperaldosteronism.

Authors:  K Miura; K Yoshinaga; K Goto; I Katsushima; M Maebashi; H Demura; M Iino; R Demura; T Torikai
Journal:  J Clin Endocrinol Metab       Date:  1968-12       Impact factor: 5.958

3.  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

4.  Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization).

Authors:  J M Saez; A M Morera; E De Peretti; J Bertrand
Journal:  J Clin Endocrinol Metab       Date:  1972-03       Impact factor: 5.958

5.  17-hydroxylation deficiency in man.

Authors:  E G Biglieri; M A Herron; N Brust
Journal:  J Clin Invest       Date:  1966-12       Impact factor: 14.808

6.  A new male pseudo-hermaphroditism associated with hypertension due to a block of 17 -hydroxylation.

Authors:  H Bricaire; J P Luton; P Laudat; J C Legrand; G Turpin; P Corvol; M Lemmer
Journal:  J Clin Endocrinol Metab       Date:  1972-07       Impact factor: 5.958

7.  Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome.

Authors:  O Goldsmith; D H Solomon; R Horton
Journal:  N Engl J Med       Date:  1967-09-28       Impact factor: 91.245

8.  Combined 17 alpha- and 18-hydroxylase deficiency associated with complete male pseudohermaphroditism and hypoaldosteronism.

Authors:  W Waldhäusl; K Herkner; P Nowotny; P Bratusch-Marrain
Journal:  J Clin Endocrinol Metab       Date:  1978-02       Impact factor: 5.958

9.  Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency.

Authors:  M I New
Journal:  J Clin Invest       Date:  1970-10       Impact factor: 14.808

10.  Studies in a phenotypic female with 17-alpha-hydroxylase deficiency.

Authors:  A K Kershnar; D Borut; M D Kogut; E G Biglieri; M Schambelan
Journal:  J Pediatr       Date:  1976-09       Impact factor: 4.406
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