Early Diagnosis of 5α-Reductase Deficiency in Newborns

2007 ◽  
Vol 1 (3) ◽  
pp. 147-151 ◽  
Author(s):  
S. Bertelloni ◽  
R.T. Scaramuzzo ◽  
D. Parrini ◽  
F. Baldinotti ◽  
S. Tumini ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Reductase Deficiency ◽  
5Α Reductase Deficiency

The Syndrome of 5α-Reductase Deficiency

1994 ◽  
Vol 4 (4) ◽  
pp. 302-314 ◽  
Author(s):  
Carmel M. Fratianni ◽  
Julianne Imperato-McGinley
Keyword(s):  
Reductase Deficiency ◽  
5Α Reductase Deficiency

DIFFERENT ASPECTS OF 5α-REDUCTASE DEFICIENCY IN MALE PSEUDOHERMAPHRODITISM AND HYPOTHYROIDISM

1981 ◽  
Vol 14 (5) ◽  
pp. 459-469 ◽  
Author(s):  
P. MAUVAIS-JARVIS ◽  
F. KUTTENN ◽  
IRÈNE MOWSZOWICZ ◽  
FRANÇOISE WRIGHT
Keyword(s):  
Male Pseudohermaphroditism ◽  
Reductase Deficiency ◽  
5Α Reductase Deficiency

Comparison of two tests to recognize or exclude 5α-reductase deficiency in prepubertal children

1987 ◽  
Vol 114 (1) ◽  
pp. 113-117 ◽  
Author(s):  
S. Greene ◽  
M. Zachmann ◽  
B. Manella ◽  
V. Hesse ◽  
W. Hoepffner ◽  
...  
Keyword(s):  
Testosterone Propionate ◽  
Physiological Age ◽  
Plasma Testosterone ◽  
Prepubertal Children ◽  
Reductase Deficiency ◽  
Age Related ◽  
Significant Difference ◽  
Group 2 ◽  
5Α Reductase Deficiency ◽  
Group 1

Abstract. Plasma testosterone (T, nmol/l) and dihydrotestosterone (DTH, nmol/l) were measured in 54 children and young adults with male pseudohermaphroditism (46XY, no defect of steroid biosynthesis) 4 h after im injection of testosterone propionate (25 mg/m2, group 1, N = 18), or before and 2, 4 and 6 days after hCG (5000 IU/m2 im, group 2, N = 36). The response to hCG was also studied in 5 control children (unilateral cryptorchidism, group 3) and that to testosterone propionate in a gonadectomized child with confirmed 5α-reductase deficiency. Mean T (133.1 ± 14.0, sem) and DHT (17.1 ± 2.6) in group 1 were higher than in group 2 (17.3 ± 2.1 and 2.9 ± 0.4), but there was not significant difference in the T/DHT ratios (group 1: 10.7 ± 2.0; group 2: 7.2 ± 0.6). Following testosterone-propionate, there was a negative correlation of T with age (r = −0.723). After hCG, T and DHT were lower in the prepubertal children than in those under 2 or over 10 years, and the T/DHT-ratio rose with age. Two children from group 1 had a T/DHT-ratio above 18, but urinary aetiocholanolone/androsterone (Ae/A) ratios were normal. In the child with 5α-reductase deficiency, the T/DHT ratio was 60, and the urinary Ae/A ratio high. We concluded that the two tests are suitable for confirming or excluding 5α-reductase deficiency in prepubertal children, in whom basal DHT is too low for evaluation, but that physiological age-related changes in 5α-reductase activity have to be taken into consideration.

scholarly journals Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations

2010 ◽  
Vol 33 (6) ◽  
pp. 841-847 ◽  
Author(s):  
L. Maimoun ◽  
P. Philibert ◽  
B. Cammas ◽  
F. Audran ◽  
C. Pienkowski ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Reductase Deficiency ◽  
Srd5a2 Gene ◽  
5Α Reductase Deficiency

The Diagnosis of 5α-Reductase Deficiency in Infancy*

1986 ◽  
Vol 63 (6) ◽  
pp. 1313-1318 ◽  
Author(s):  
JULIANNE IMPERATO-McGINLEY ◽  
TEOFILO GAUTIER ◽  
MARINO PICHARDO ◽  
CEDRIC SHACKLETON
Keyword(s):  
Reductase Deficiency ◽  
5Α Reductase Deficiency

5α-reductase deficiency: diagnosis via abnormal plasma levels of reduced testosterone derivatives

1984 ◽  
Vol 107 (4) ◽  
pp. 538-543 ◽  
Author(s):  
R. J. M. Corrall ◽  
K. Wakelin ◽  
J. P. O'Hare ◽  
I. A. D. O'Brien ◽  
A. A. A. Ishmail ◽  
...  
Keyword(s):  
Plasma Levels ◽  
Family Members ◽  
Heterozygous State ◽  
Simple Method ◽  
Reductase Deficiency ◽  
Primary Amenorrhoea ◽  
5Α Reductase Deficiency

Abstract. A case of 5α-reductase deficiency is described who presented clinically as primary amenorrhoea. Plasma levels of the two isomers resulting from the 5α-reduction of testosterone provide a simple method for diagnosing this condition. An intermediate abnormality was found in other family members consistent with the heterozygous state.

scholarly journals Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

2011 ◽  
Vol 96 (2) ◽  
pp. 296-307 ◽  
Author(s):  
Laurent Maimoun ◽  
Pascal Philibert ◽  
Benoit Cammas ◽  
Françoise Audran ◽  
Philippe Bouchard ◽  
...  
Keyword(s):  
International Experience ◽  
Molecular Heterogeneity ◽  
Reductase Deficiency ◽  
5Α Reductase Deficiency
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