Results 21 to 30 of about 41,875 (218)

Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

International Journal of Neonatal Screening, 2020
Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years.
P. Held, I. Bird, N. Heather
semanticscholar   +1 more source

IS CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY DECEPTIVE DISEASE? MANAGEMENT AND DIFFERENTIATION OF SYNDROME IN ADULTS

Праці Наукового товариства імені Шевченка. Медичні науки, 2017
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi ciency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone ...
Anna Nowak
doaj   +1 more source

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

Journal of Clinical Endocrinology and Metabolism, 2018
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.
P. Speiser, W. Arlt, R. Auchus, L. Baskin, G. Conway, D. Merke, H. Meyer-Bahlburg, W. Miller, M. Murad, S. Oberfield, P. White   +10 more
semanticscholar   +1 more source

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

Frontiers in Behavioral Neuroscience, 2020
Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess.
Elisabeth Daae, K. B. Feragen, Anne Waehre, I. Nermoen, H. Falhammar   +4 more
semanticscholar   +1 more source

Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy. [PDF]

CPT Pharmacometrics Syst Pharmacol
ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Bindellini D, Michelet R, Mirasbekov Y, Lao Q, Sukin C, Huisinga W, Merke DP, Kloft C.   +7 more
europepmc   +2 more sources

PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Endocrine Practice, 2020
Context: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Objective: To estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population. Data
I. Nermoen, H. Falhammar
semanticscholar   +1 more source

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia (CAH).

European Journal of Endocrinology, 2020
Gonadal dysfunction is an adverse outcome in patients with congenital adrenal hyperplasia (CAH), which may become apparent already during puberty. Clinical consequences of gonadal dysfunction include menstrual disturbances in females and hypogonadism and
H. Claahsen-van der Grinten, N. Stikkelbroeck, H. Falhammar, N. Reisch   +3 more
semanticscholar   +1 more source

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Italian Journal of Pediatrics, 2017
Background Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of ...
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa   +6 more
doaj   +1 more source

The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives

Frontiers in Endocrinology, 2023
Newborn screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone by immunoassay remains controversial despite screening been available for almost 40 years. Screening is confounded by poor immunoassay specificity, fetal adrenal physiology,
Mark de Hora, Mark de Hora, Natasha Heather, Natasha Heather, Dianne Webster, Dianne Webster, Benjamin Albert, Paul Hofman   +7 more
doaj   +1 more source

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.

Cochrane Database of Systematic Reviews, 2020
BACKGROUND Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency and is the most common cause of adrenal insufficiency in children.
S. Ng, K. Stepien, A. Krishan
semanticscholar   +1 more source