Results 11 to 20 of about 19,224 (187)

Congenital adrenal hyperplasia [PDF]

The Lancet, 2017
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that ...
Wiebke Arlt, Diala El-Maouche, Deborah P. Merke   +2 more
openaire   +7 more sources

Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Journal of Nepal Medical Association, 2020
Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal, Deepa Khanal, Rajan Phuyal, Uttara Adhikari   +3 more
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

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

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

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

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature

Radiology Case Reports, 2022
Congenital adrenal hyperplasia is an autosomal recessive disease most commonly associated with 21-hydroxylase deficiency, an enzyme integral in the biosynthesis of mineralocorticoids and glucocorticoids.
Aaron Jacobson, DO, M. Eng., Elaine Koberlein, BS, Alan Thomay, MD, Cara B Lombard, MD, Ayodele Adelanwa, MD, Dhairya A Lakhani, MD, Kelly T. Smith, MD, MS   +6 more
doaj  

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

Congenital Adrenal Hyperplasia [PDF]

Archives of Disease in Childhood, 1974
Congenital adrenocortical hyperplasia is a complex endocrine disorder of importance to the paediatric urologist because it produces an intersex state in the female and precocious virilisation in the male. The excessive secretion of androgens by the foetal adrenal cortex commences in early foetal life at some time after the differentiation of the ...
openaire   +3 more sources

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