Early diagnosis of congenital adrenal hyperplasia by measurement of 17-hydroxyprogesterone. 1975

E Youssefnejadian, and R David

Plasma 17-hydroxyprogesterone was measured by a simple radioimmunoassay technique in six infants, aged 3 days to 3 months, with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hormonal levels in this group were compared to those of twenty normal newborns and to those found in sixty samples of umbilical vein blood from normal deliveries. Plasma 17-hydroxyprogesterone concentrations were markedly elevated in all congenital adrenal hyperplasia infants (range 544.7-1837 nmol/l, normal 3.03-19.06) at a time when urinary studies in some of these were either not diagnostic or inconclusive. In one infant whose cord blood was analysed, the level was also greatly raised. The data suggest that early definitive diagnosis of congenital adrenal hyperplasia can be established by measurement of plasma 17-hydroxyprogesterone.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011279 Pregnanetriol A metabolite of 17-ALPHA-HYDROXYPROGESTERONE, normally produced in small quantities by the GONADS and the ADRENAL GLANDS, found in URINE. An elevated urinary pregnanetriol is associated with CONGENITAL ADRENAL HYPERPLASIA with a deficiency of STEROID 21-HYDROXYLASE. 5-beta-Pregnane-3,17,20-triol,5beta-Pregnane-3alpha,17alpha,20alpha-triol
D005260 Female Females
D005312 Fetal Blood Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the PLACENTA. The cord blood is blood contained in the umbilical vessels (UMBILICAL CORD) at the time of delivery. Cord Blood,Umbilical Cord Blood,Blood, Cord,Blood, Fetal,Blood, Umbilical Cord,Bloods, Cord,Bloods, Fetal,Bloods, Umbilical Cord,Cord Blood, Umbilical,Cord Bloods,Cord Bloods, Umbilical,Fetal Bloods,Umbilical Cord Bloods
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006908 Hydroxyprogesterones Metabolites or derivatives of PROGESTERONE with hydroxyl group substitution at various sites.
D000308 Adrenocortical Hyperfunction Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM. Hyperadrenocorticism,Hypercorticism,Adrenal Gland Hyperfunction,Hyperadrenalism,Hyperfunction, Adrenal Gland,Hyperfunction, Adrenocortical
D000311 Adrenal Glands A pair of glands located at the cranial pole of each of the two KIDNEYS. Each adrenal gland is composed of two distinct endocrine tissues with separate embryonic origins, the ADRENAL CORTEX producing STEROIDS and the ADRENAL MEDULLA producing NEUROTRANSMITTERS. Adrenal Gland,Gland, Adrenal,Glands, Adrenal
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal

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