Results 171 to 180 of about 32,144 (200)

EndoCompass Project: Research Roadmap for Adrenal and Cardiovascular Endocrinology.

Horm Res Paediatr
Husebye ES, Assié G, Krone N, Achermann JC, Altieri B, Amar L, Araujo-Castro M, Brown MJ, Casey RT, Claahsen-van der Grinten HL, Davies E, Deinum J, Flück CE, Kastelan D, Kroiss M, Mulatero P, Laakso S, Pearce SH, Reincke M, Reisch N, Robledo M, Ronchi CL, Vassiliadi DA, Wiegering V, Zennaro MC.   +24 more
europepmc   +1 more source

Evaluation of Sleep Health in Children With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Golob L, Mercado-Munoz Y, Liu W, Singh A, Hodges JS, Siegel L, Morero H, Gao Z, Tipp A, Simon SL, Sarafoglou K.   +10 more
europepmc   +1 more source

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Congenital Adrenal Hyperplasia

Journal of Pediatric and Adolescent Gynecology, 2011
Congenital adrenal hyperplasia (CAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features reflect the magnitude of the loss of function mutations.
Selma Feldman, Witchel, Ricardo, Azziz
  +6 more sources

Congenital Adrenal Hyperplasia

AJN, American Journal of Nursing, 1976
The child with congenital adrenal hyperplasia can lead a normal life provided the diagnosis is made early. But daily adjustment of medication makes up the day of families whose children have this genetically determined condition. Although uncommon statistically, the condition poses real problems to the parents and staff who manage the child's health ...
M, Sarotti, P, Bianchi
openaire   +4 more sources

CONGENITAL ADRENAL HYPERPLASIA

Endocrinology and Metabolism Clinics of North America, 1997
A clinical spectrum, varying from prenatal onset to postnatal onset of symptoms, exists in all hyperandrogenic forms of congenital adrenal hyperplasia (CAH). Postnatal onset hyperandrogenic symptoms such as premature pubarche, clitoromegaly, hirsutism, menstrual disorders and infertility are well known manifestations of CAH due to 21-hydroxylase ...
M I, New, R S, Newfield
openaire   +6 more sources

Congenital Adrenal Hyperplasia

Clinical Biochemistry, 1973
The enzyme defects of steroidogenesis appear to be monogenic disorders. The clinical heterogeneity of these disorders suggests allelic variations at the loci for these disorders, as has been reported for other gentic inborn errors. When the genes for these enzymes are cloned and sequenced, the final proof of allelism will be obtained.
M I, New, L S, Levine
openaire   +4 more sources

Congenital Adrenal Hyperplasia

New England Journal of Medicine, 2003
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex.
Phyllis W, Speiser, Perrin C, White
openaire   +3 more sources

Congenital adrenal hyperplasia

Yearbook of Paediatric Endocrinology, 2023
Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to multiple complex hormonal imbalances caused by various enzyme deficiencies in the adrenal steroidogenic pathway. The most common type of congenital adrenal hyperplasia is due to steroid 21-hydroxylase (21-OHase, henceforth 21OH) deficiency.
Matthias K, Auer, Anna, Nordenström, Svetlana, Lajic, Nicole, Reisch   +3 more
openaire   +2 more sources

Congenital Adrenal Hyperplasia

Urologic Clinics of North America, 1977
SUMMARY In summary, the term congenital adrenal hyperplasia refers to a group of inherited disorders of adrenal steroidogenesis that frequently causes ambiguous genitalia in utero. 21-hydroxylase and 11-hydroxylase deficiencies, which account for more than 95 per cent of the cases, cause ambiguous genitalia in the female due to virilization of the ...
S, Handwerger, J H, Silverstein
openaire   +2 more sources