Congenital Adrenal Hyperplasia

Abstract

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Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?

“…This is in contrast to our find¬ ings, where clearly the abnormality is well within the heterozygous range for the 21-hydroxylase defect. Their patients therefore might rather qualify for the so-called nonclassical forms of the 21-hydro¬ xylase deficiency and maybe correspond to the late-onset form of CAH (New 1984). Similarly, the patients described by Bouchard et al (1981), unlike our population, also had elevated baseline 170H-P levels.…”

“…after an intravenous bolus of ACTH (Synacthen®) (Knorr et al1975, Knorr et al1977, Weil et al1979). The reliabili¬ ty and validity of this test has been confirmed by several authors (Lee & Gareis 1975, Gourmelen et al1979, Gutai et al1979, Lorenzen et al1980, Mauseth et al1980, Bercovici et al1981, New & Levine 1984, Holler et al1985 and consequently improved by the discovery of the close genetic linkage of the HLA complex to the 21-hydroxylase deficiency gene (New & Levine 1984, Höller et al1985. We applied this ACTH-stimulation test to children affected with pre¬ mature pubarche, hirsutism, early puberty, and true precocious puber¬ ty.…”

Adrenale Enzymdefekte und Intersexualität

“…Fü r die Entwicklung von klinisch relevanten Virilisierungserscheinungen sind dabei der 21-Hydroxylase-, der 11b-Hydroxylase-und der 3b-Hydroxysteroid-Dehydrogenase-Defekt (Abb. 1) von Bedeutung [8]. …”

“…Dabei hat sich bei der Diagnosestellung einer Late-onset-Form des AGS die Messung der entsprechenden Steroidhormonparameter fü r den jeweiligen Enzymdefekt (17a-Hydroxyprogesteron, 11-Desoxycortisol, DHEA) im Rahmen eines Synacthen (ACTH)-Tests besonders bewä hrt [8].…”

“…Mit der Messung von 17a-Hydroxyprogesteron im Serum vor und nach Synacthen(ACTH)-Gabe gelingt es, 60-80 % aller heterozygoten Merkmalsträ ger zu diagnostizieren [8]. Dabei sind die Basalwerte fü r 17a-Hydroxyprogesteron im Gegensatz zu homozygoten Merkmalsträ-gern nicht signifikant unterschiedlich von denen der Normalbevö lkerung, nach ACTH-Gabe kommt es aber zu einem ü berschießenden Anstieg (D17a-Hydroxyprogesteron > 2,6 ng/ ml).…”