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Literature DB >> 2786019

Male pseudohermaphroditism due to 17-hydroxylase deficiency.

A D'Alberton¹, E Reschini, T Motta, A Catania.

Abstract

A 27-year-old phenotypic female presented with primary amenorrhea, severe hypertension, and hypokalemia. At the age of puberty sexual development had not occurred; in particular, sexual hair had not grown. Past history revealed an episode of subarachnoid hemorrhage and several episodes of ventricular tachyarrhythmia. Karyotype was 46, XY. The steroids requiring 17-hydroxylation (cortisol, testosterone, pregnanetriol, 17-ketosteroids, 17-hydroxycorticosteroids) were low, while those not requiring 17-hydroxylation (progesterone, deoxycorticosterone, corticosterone) were high, demonstrating 17-hydroxylase deficiency. The corticosterone/deoxycorticosterone ratio was relatively low, suggesting an associated partial deficiency of 11-hydroxylase.

Entities: Chemical Disease

Mesh：

Substances：

Year: 1989 PMID： 2786019 DOI： 10.1007/BF03349960

Source DB: PubMed Journal: J Endocrinol Invest ISSN： 0391-4097 Impact factor: 4.256

21 in total

1. The determination of 17,21-dihydroxy-20-ketosteroids in urine and plasma.

Authors: R H SILBER; C C PORTER
Journal: J Biol Chem Date: 1954-10 Impact factor: 5.157

2. Plasma deoxycorticosterone radioimmunoassay: method and clinical applications.

Authors: F Mantero; N Sonino; P Masarotto
Journal: J Nucl Biol Med Date: 1975 Oct-Dec

3. The determination of urinary steroids. I. The preparation of pigment-free extracts and a simplified procedure for the estimation of total 17-ketosteroids.

Authors: I J DREKTER; A HEISLER; G R SCISM; S STERN; S PEARSON; T H McGAVACK
Journal: J Clin Endocrinol Metab Date: 1952-01 Impact factor: 5.958

4. Application of a radioimmunoassay for angiotensin I to the physiologic measurements of plasma renin activity in normal human subjects.

Authors: E Haber; T Koerner; L B Page; B Kliman; A Purnode
Journal: J Clin Endocrinol Metab Date: 1969-10 Impact factor: 5.958

5. Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries.

Authors: S R Mallin
Journal: Ann Intern Med Date: 1969-01 Impact factor: 25.391

6. 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

7. Testicular in vitro conversion of progesterone to testosterone and androstenedione in 17 alpha-hydroxylase deficiency.

Authors: I S Salti; H Hajj; S Dhib-Jalbut
Journal: J Steroid Biochem Date: 1982-08 Impact factor: 4.292

Male pseudohermaphroditism due to 17-hydroxylase deficiency.

1. The determination of 17,21-dihydroxy-20-ketosteroids in urine and plasma.

2. Plasma deoxycorticosterone radioimmunoassay: method and clinical applications.

3. The determination of urinary steroids. I. The preparation of pigment-free extracts and a simplified procedure for the estimation of total 17-ketosteroids.

4. Application of a radioimmunoassay for angiotensin I to the physiologic measurements of plasma renin activity in normal human subjects.

5. Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries.

6. 17-hydroxylation deficiency in man.

7. Testicular in vitro conversion of progesterone to testosterone and androstenedione in 17 alpha-hydroxylase deficiency.

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

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

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

1. On the antenatal diagnosis of 17-hydroxylase deficiency.