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.

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

SUPRAHYPOPHYSEAL DYSFUNCTION IN A PATIENT WITH ASEXUAL ATELEIOSIS

1978 ◽  
Vol 87 (3) ◽  
pp. 449-455
Author(s):  
Martha Medina ◽  
Adalberto Parra ◽  
Hugo E. Scaglia ◽  
Laura Nieto ◽  
Gregorio Pérez-Palacios
Keyword(s):  
Plasma Levels ◽  
Ovarian Function ◽  
Clomiphene Citrate ◽  
Pubertal Development ◽  
Significant Rise ◽  
Primary Amenorrhoea ◽  
Gh Secretion ◽  
Normal Limits ◽  
Undetectable Plasma ◽  
Lh Rh

ABSTRACT The neuroendocrine function of a 19 years old female dwarf with primary amenorrhoea and lack of sexual development (asexual ateleiosis) was studied. Undetectable fasting plasma levels of growth hormone (GH) and a lack of response to three different provocative stimuli was observed. Oestrogen administratin did not modify the GH response. Thyroid and adrenal function were within normal limits. Undetectable plasma levels of immunoreactive oestradiol and lack of oestrogenic activity in vaginal smears indicated absence of ovarian function. Low levels of circulating gonadotrophins with a significant rise after synthetic LH-RH administration was demonstrated, while clomiphene citrate failed to induce ovulation. Following 6 months of continuous GH administration a significant increase in the growth rate was evident, whereas no pubertal development was observed. These data are interpreted as demonstrating the suprahypophyseal origin of the sexual infantilism in a patient with inappropriate GH secretion. It is suggested that a combined deficiency of LH-RH and GH-RH may account for the aetiology of this disorder.

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

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

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
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