Results 31 to 40 of about 54,890 (322)

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

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

Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency [PDF]

, 2010
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.
Araujo-Vilar, D., Arlt, Wiebke, Castro-Feijoo, L., Cole, T. R., Conway, G. S., Dhir, V., Dominguez, F., Hampel, R., Kaminsky, E., Kirk, J. M., Krone, Nils, Loidi, L., Parajes, S., Pombo, M., Quinkler, M., Reisch, N., Rose, I. T., Rumsby, G., Williams, E. L.   +18 more
core   +2 more sources

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

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Adrian J. L. Clark, Angela Huebner, Aya, Baker, Bhangoo, Bose, Chen, Clark, Cooray, Dan M. Berney, Danielle Naville, Flück, Fujieda, Fujieda, George Halaby, Génin, Gudrun Nürnberg, Jane Green, Jeremy W. Tomlinson, John C. Achermann, Korsch, Lin, Lin, Lin Lin, Louise A. Metherell, Martine Begeot, Metherell, Michael Racine, Miller, Miller, Nakae, Nils P. Krone, O'Riordan, Okuyama, Peter Nürnberg, Qiu, Stocco, Tsigos, Wiebke Arlt   +38 more
core   +2 more sources

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

An integrated PK‐PD model for cortisol and the 17‐hydroxyprogesterone and androstenedione biomarkers in children with congenital adrenal hyperplasia

British Journal of Clinical Pharmacology, 2020
The aim of this study was to characterize the pharmacokinetic/pharmacodynamic relationships of cortisol and the adrenal biomarkers 17‐hydroxyprogesterone and androstenedione in children with congenital adrenal hyperplasia (CAH).
M. Al-Kofahi, Mariam A. Ahmed, Mutaz M. Jaber, Thang N. Tran, B. Willis, C. Zimmerman, M. T. Gonzalez-Bolanos, R. Brundage, K. Sarafoglou   +8 more
semanticscholar   +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

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.
Bonfig, W., Schwarz, H. P.
core   +1 more source