Results 171 to 180 of about 32,087 (214)

Dexamethasone therapy in adolescents with inadequately controlled congenital adrenal hyperplasia: effects on hormonal Suppression, Puberty, and gonadal outcomes. [PDF]

Endocrine
Çelik Ertaş NB, Şenkalfa B, Vurallı D, Özön ZA, Gönç EN.   +4 more
europepmc   +1 more source

Perception of women with classic congenital adrenal hyperplasia and their parents on genital surgery and a diagnosis of differences of sex development: a retrospective survey. [PDF]

J Endocrinol Invest
Tschaidse L, Sappl A, Nowotny HF, Welp AC, Auer MK, Schmidt H, Reisch N.   +6 more
europepmc   +1 more source

Decreased Gross Motor, Working Memory, and Adaptive Behavior in Children with Congenital Adrenal Hyperplasia.

Horm Res Paediatr
Yamashita NL, Deras EA, O Apos Neil SH, Pickering TA, Hoffman-Kipp BP, Fraga NR, Biele O, Simon G, Geffner ME, Kim MS.   +9 more
europepmc   +1 more source

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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   +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
exaly   +5 more sources

Congenital adrenal hyperplasia

The Lancet, 2005
Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency.
Deborah P, Merke, Stefan R, Bornstein
openaire   +4 more sources

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