Untersuchungen zur Altersabhängigkeit der Ausscheidung einzelner chromatographisch getrennter Steroide während des Kindes- und Reifungsalters

Knorr, Dietrich

doi:10.1007/978-3-642-49895-4_9

Cited by 2 publications

(2 citation statements)

References 18 publications

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“…Urinary [ 3 H]etiocholanolone to [ 3 H]androsterone ratios identify the affected patients clearly because the normal ratio of these urinary metabolites of T for prepubertal children is less than 1 (22,23).…”

Section: Discussionmentioning

confidence: 97%

Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency*

Saenger

Goldman

Levine

et al. 1978

The Journal of Clinical Endocrinology & Metabolism

101

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The diagnosis of 5 alpha-reductase deficiency was proven in two prepubertal patients with male pseudohermaphroditism (MPH). Both had a 46-XY karyotype and were reared as females; one child had been castrated in infancy. Clitoromegaly, urogenital sinus, and short vaginal pouch were present in both; inguinal gonads were palpable in one. The diagnosis was made biochemically by observing characteristic changes in five parameters: 1) abnormally high testosterone to dihydrotestosterone (T:DHT) ratio after hCG stimulation (35 and 53 vs. normal, 11 +/- 3), 2) abnormally high 5 beta-T metabolites in urine (8.1 and 6.0 vs. normal, less than 1),3) deficient conversion of T to DHT during [3H] T infusion (0.3 and 0.4% vs. normal, 5.3 +/- 3), 4) deficient conversion of [14 C] T to 5 alpha-reduced metabolites by nongenital skin fibroblasts (2.2 and 1.9 pmol/microgram DNA/nmol substrate vs. 68.4+/- 7.8 Pmol/microgram DNA/nmol substrate in normal controls), and 5) deficient conversion of [14C]T to DHT in genital skin slices. The fact that this syndrome represents a defect in T metabolism rather in in T binding is demonstrated by the observation that binding of [3H]DHT to cytosol of skin fibroblasts was normal (4.2 dpm/micrograms DNA vs. normal male values of 3.7 +/- 0.64). Thus, the present report suggests that 5 alpha-reductase deficiency can be diagnosed during childhood and even after castration by metabolic studies of nongenital skin fibroblasts and determination of the conversion ratio of [3H]T to [3H]DHT in plasma.

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Section: Discussionmentioning

confidence: 97%

Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency*

Saenger

Goldman

Levine

et al. 1978

The Journal of Clinical Endocrinology & Metabolism

101

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“…During puberty there is increased urinary excretion of 17ketosteroids in both sexes. Until the age of about 16 years there is no sex difference, afterwards excretion in the male becomes higher than in the female (Knorr, 1965; for a review see Tanner, 1969). This increase in urinary 17-KS excretion in both sexes is mainly due to increased production of adrenal androgens (Visser, 1966;Visser and Degenhart, 1966).…”

Section: -mentioning

confidence: 99%

Some physiological and clinical aspects of puberty.

Visser¹

1973

Archives of Disease in Childhood

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Puberty is usually taken to be the process of maturation of the sexually immature child into the sexually mature adolescent, while the term adolescence has been used to describe that period of human development when secondary sex characteristics have appeared completely but full maturity has not been reached. Recently psychologists and child psychiatrists have been using the term adolescence particularly to refer to the emotional and behavioural development and the changes in social interaction during this period of life. In this review we shall use, as Tanner (1962), the words puberty and adolescence without distinction.This review will emphasize physiological rather than clinical aspects of puberty. Several excellent books and review papers on the subject are available (

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Untersuchungen zur Altersabhängigkeit der Ausscheidung einzelner chromatographisch getrennter Steroide während des Kindes- und Reifungsalters

Cited by 2 publications

References 18 publications

Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency*

Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency*

Some physiological and clinical aspects of puberty.

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