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CONGENITAL ADRENAL HYPERPLASIA WITH 11‐HYDROXYLASE DEFICIENCY A Case Report and Contribution to Diagnosis
Author(s) -
Blunck W.,
Bierich J. R.
Publication year - 1968
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1968.tb04670.x
Subject(s) - medicine , congenital adrenal hyperplasia , hyperplasia , endocrinology , excretion , pediatrics
Summary Case report on a 2 ½‐year‐old Turkish boy with iso‐sexual precocious puberty suffering from congenital adrenal hyperplasia. The parents are first cousins. There was no hypertension. The diagnostic procedures are presented. Values for the main corticosteroids, 17‐ketosteroids and testosterone are reported; a simple determination of the THS‐fraction by thin‐layer‐chromatography on one plate in solvent systems of ascending polarity is shown. A highly elevated excretion of THS up to 8.6 mg/day was found.