Results 31 to 40 of about 401,716 (213)

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

Proceedings of the Shevchenko Scientific Society: Medical Sciences, 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

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.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +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

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia [PDF]

, 2005
Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids.
Maret, A, Achermann, J. C., Mullis, PE, Morel, Y., Leheup, B, Flück, Christa E., Portrat-Doyen, Stéphanie, Leheup, B., Achermann, JC, Mallet, D, Fluck, CE, Mullis, Primus-Eugen, Fluck, C. E., Maret, A., Morel, Yves, Mullis, P. E., Theintz, Gérald E., Portrat-Doyen, S., Theintz, GE, Leheup, Bruno, Mallet, D., Achermann, John C., Theintz, G. E., Morel, Y, Portrat-Doyen, S, Maret, Alexander, Mallet, Delphine   +26 more
core   +2 more sources

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 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., Bonfig, W;Schwarz, HP, Bonfig, W.;Schwarz, H. P.   +5 more
core   +1 more source

Congenital Adrenal Hyperplasia

Annals of Saudi Medicine, 1991
The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme ...
H, Salman, A, Abanamy, B, Ghassan, M, Khalil   +3 more
openaire   +2 more sources

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]

, 2010
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., Bonfig, W.;Schmidt, H.;Schwarz, H. P., H. Schmidt, W. Bonfig, Bonfig, W;Schmidt, H;Schwarz, HP, H.P. Schwarz   +7 more
core   +1 more source