Biomaterial Database

Cortisol in dried blood screening specimens from newborns with raised 17-hydroxyprogesterone and congenital adrenal hyperplasia. 1998

M L Mitchell, and R J Hermos

New England Newborn Screening Program, University of Massachusetts Medical Center, Jamaica Plain, MA 02130, USA.

OBJECTIVE Screening for congenital adrenal hyperplasia (CAH) in newborns has become a routine part of many programmes by measuring levels of 17 alpha-hydroxyprogesterone (17-OHP) in the newborn filter-paper blood specimen. Unfortunately, raised levels of 17-OHP, which are largely the consequence of cross-reacting metabolites, are also found in low birth weight, premature and ill neonates. We speculated that differences in concentrations of cortisol in the newborn screening specimen would aid in distinguishing between CAH positive and CAH negative infants among those with raised levels of 17-OHP. METHODS Comparison of cortisol concentrations was made between newborns with CAH and those without but with raised 17-OHP levels. METHODS Newborn filter-paper blood specimens from 31 infants with transient 17-OHP elevations and 16 infants with confirmed CAH were analysed for cortisol. In addition, assay performance was validated by comparing cortisol values obtained from dried whole blood on filter-paper with the corresponding plasma from 31 adults and six neonates. METHODS Cortisol in filter-paper blood specimens was determined by adapting a commercial radioimmunoassay kit that had been designed for the determination of cortisol in serum. RESULTS The mean cortisol level in the CAH negative group was significantly higher than the mean value in the group with documented CAH (means 1190 +/- 795 nmol/l vs 627 +/- 210 nmol/l; P < 0.01). However, approximately half of the CAH negative infants had cortisol values that overlapped those from the CAH positive group. There was no relationship between the magnitude of the 17-OHP elevation and cortisol concentrations. CONCLUSIONS The measurements of cortisol in dried blood on filter-paper using a commercial radioimmunoassay kit has been shown to be reliable and simple to carry out. The level of cortisol in newborn blood specimens can be used to exclude some infants with elevated 17 alpha-hydroxyprogesterone levels from further testing for CAH. However, overlapping cortisol values between CAH positive and negative infants precludes the assay of cortisol from being used routinely as a reliable means of decision making.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011237	Predictive Value of Tests	In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.	Negative Predictive Value,Positive Predictive Value,Predictive Value Of Test,Predictive Values Of Tests,Negative Predictive Values,Positive Predictive Values,Predictive Value, Negative,Predictive Value, Positive
D011863	Radioimmunoassay	Classic quantitative assay for detection of antigen-antibody reactions using a radioactively labeled substance (radioligand) either directly or indirectly to measure the binding of the unlabeled substance to a specific antibody or other receptor system. Non-immunogenic substances (e.g., haptens) can be measured if coupled to larger carrier proteins (e.g., bovine gamma-globulin or human serum albumin) capable of inducing antibody formation.	Radioimmunoassays
D011933	Reagent Kits, Diagnostic	Commercially prepared reagent sets, with accessory devices, containing all of the major components and literature necessary to perform one or more designated diagnostic tests or procedures. They may be for laboratory or personal use.	Diagnostic Reagent Kits,Diagnostic Reagents and Test Kits,Diagnostic Test Kits,In Vitro Diagnostic Device,In Vitro Diagnostic Devices,In Vitro Diagnostic Medical Device,In Vitro Diagnostic Medical Devices,Kits, Diagnostic Reagent,Diagnostic Reagent Kit,Diagnostic Test Kit,Kit, Diagnostic Reagent,Kit, Diagnostic Test,Kits, Diagnostic Test,Reagent Kit, Diagnostic,Test Kit, Diagnostic,Test Kits, Diagnostic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006854	Hydrocortisone	The main glucocorticoid secreted by the ADRENAL CORTEX. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions.	Cortef,Cortisol,Pregn-4-ene-3,20-dione, 11,17,21-trihydroxy-, (11beta)-,11-Epicortisol,Cortifair,Cortril,Epicortisol,Hydrocortisone, (11 alpha)-Isomer,Hydrocortisone, (9 beta,10 alpha,11 alpha)-Isomer,11 Epicortisol
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
D015415	Biomarkers	Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, ENVIRONMENTAL EXPOSURE and its effects, disease diagnosis; METABOLIC PROCESSES; SUBSTANCE ABUSE; PREGNANCY; cell line development; EPIDEMIOLOGIC STUDIES; etc.	Biochemical Markers,Biological Markers,Biomarker,Clinical Markers,Immunologic Markers,Laboratory Markers,Markers, Biochemical,Markers, Biological,Markers, Clinical,Markers, Immunologic,Markers, Laboratory,Markers, Serum,Markers, Surrogate,Markers, Viral,Serum Markers,Surrogate Markers,Viral Markers,Biochemical Marker,Biologic Marker,Biologic Markers,Clinical Marker,Immune Marker,Immune Markers,Immunologic Marker,Laboratory Marker,Marker, Biochemical,Marker, Biological,Marker, Clinical,Marker, Immunologic,Marker, Laboratory,Marker, Serum,Marker, Surrogate,Serum Marker,Surrogate End Point,Surrogate End Points,Surrogate Endpoint,Surrogate Endpoints,Surrogate Marker,Viral Marker,Biological Marker,End Point, Surrogate,End Points, Surrogate,Endpoint, Surrogate,Endpoints, Surrogate,Marker, Biologic,Marker, Immune,Marker, Viral,Markers, Biologic,Markers, Immune
D019326	17-alpha-Hydroxyprogesterone	A metabolite of PROGESTERONE with a hydroxyl group at the 17-alpha position. It serves as an intermediate in the biosynthesis of HYDROCORTISONE and GONADAL STEROID HORMONES.	17-Hydroxyprogesterone,17 alpha-Hydroxyprogesterone,17-Hydroxyprogesterone, (17 alpha)-Isomer,17-Hydroxyprogesterone, (9 beta, 10 alpha)-Isomer,17 Hydroxyprogesterone,17 alpha Hydroxyprogesterone