Results 21 to 30 of about 19,833 (220)

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

SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION [PDF]

Romanian Journal of Pediatrics, 2017
Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease.
Roxana Tanase, Alina Stoicescu, Elena Georgescu, Carmen Pascu, Serban Rogoz, Oana Falup-Pecurariu   +5 more
doaj   +1 more source

Congenital Adrenal Hyperplasia as a Cause of Secondary Hypertension in Adults: Three Cases Sekonder Hipertansiyon Sebebi Olarak Konjenital Adrenal Hiperplazi: Üç Vaka

Endocrinology Research and Practice, 2019
Congenital adrenal hyperplasia is a group of hereditary disorders originating from enzymatic defects in steroidogenesis, resulting in impaired cortisol synthesis in the adrenal cortex.
İnan ANAFOROĞLU, Ekrem ALGÜN, Kerem ERSOY   +2 more
doaj   +1 more source

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
W. Bonfig, H.P. Schwarz, Bonfig, W., Schwarz, H. P.   +3 more
core   +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

Syrian females with congenital adrenal hyperplasia: a case series

Journal of Medical Case Reports, 2022
Background One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing ...
Nada Dehneh, Rami Jarjour, Sahar Idelbi, Assad Alibrahem, Sahar Al Fahoum   +4 more
doaj   +1 more source

Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]

, 2011
Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
core   +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

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants [PDF]

, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
core   +1 more source

Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia

IJU Case Reports, 2021
Introduction Solid testis tumors in post‐pubertal males usually represent germ cell malignancies; however, other uncommon or rare histologies must be considered.
Erica C Roberts, Samantha W Nealon, Jasreman Dhillon, John B Tourtelot, Bryan McIver, Wade J Sexton   +5 more
doaj   +1 more source