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Literature DB >> 999330

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.

G F Heremans, A J Moolenaar, H H van Gelderen.

Abstract

The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of testicular feminization should not be made without excluding a defect of testosterone synthesis.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1976 PMID： 999330 PMCID： PMC1546244 DOI： 10.1136/adc.51.9.721

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

9 in total

1. A simple fluorimetric method for the estimation of free 11-hydroxycorticoids in human plasma.

Authors: D MATTINGLY
Journal: J Clin Pathol Date: 1962-07 Impact factor: 3.411

2. 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

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. 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

5. [17-Hydroxylase deficiency. Apropos of a case].

Authors: M Linquette; A Dupont; A Racadot; J Lefebvre; J P May; J P Cappoen
Journal: Ann Endocrinol (Paris) Date: 1971 Jul-Aug Impact factor: 2.478

6. Gaschromatographic determination of steroids in the urine of patients with Cushing's syndrome.

Authors: A J Moolenaar; A P van Seters
Journal: Acta Endocrinol (Copenh) Date: 1971-06

7. [Arterial hypertension, hypokalemic alkalosis and male pseudohermaphroditism caused by 17 alpha-hydroxylase deficiency].

Authors: F Mantero; B Busnardo; A Riondel; R Veyrat; M Austoni
Journal: Schweiz Med Wochenschr Date: 1971-01-16

8. 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

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

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

9 in total

7 in total

7. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.

Authors: Eun Yeong Mo; Ji Young Lee; Su Yeon Kim; Min Ji Kim; Eun Sook Kim; Seungok Lee; Je Ho Han; Sung Dae Moon
Journal: Endocrinol Metab (Seoul) Date: 2018-09

7 in total

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.

1. A simple fluorimetric method for the estimation of free 11-hydroxycorticoids in human plasma.

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

3. Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity.

4. 17-hydroxylation deficiency in man.

5. [17-Hydroxylase deficiency. Apropos of a case].

6. Gaschromatographic determination of steroids in the urine of patients with Cushing's syndrome.

7. [Arterial hypertension, hypokalemic alkalosis and male pseudohermaphroditism caused by 17 alpha-hydroxylase deficiency].

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

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

1. Male pseudohermaphroditism due to 17-hydroxylase deficiency.

2. Spontaneous sexual development and menarche in a female with 17 alpha-hydroxylase deficiency.

Review 3. Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity.

Review 4. XY females with enzyme deficiencies of steroid metabolism. A brief review.

Review 5. Gender verification in competitive sports.

6. Male pseudohermaphroditism: genetics and clinical delineation.

7. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.