Results 241 to 250 of about 72,115 (280)

Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia. [PDF]

Endocrinol Diabetes Metab Case Rep
de Oliveira WL, de Aguiar Silva EM, de Melo Oliveira CE, Alves Filho W, Martins Costa MC, Carvalho de Alencar R, de Almeida Vieira CA, Pinto Quidute AR.   +7 more
europepmc   +1 more source

The corpus callosum in people with congenital adrenal hyperplasia (CAH). [PDF]

Sci Rep
Luders E, Spencer D, Dale C, Hughes IA, Thankamony A, Srirangalingam U, Gleeson H, Simpson H, Hines M, Kurth F.   +9 more
europepmc   +1 more source

PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.

J Clin Endocrinol Metab
Vaduva P, Bouys L, Jouinot A, Espiard S, Chansavang A, Berthon A, Néou M, Vaczlavik A, Violon F, Charchar H, Kroiss M, Raverot G, Lasolle H, Guignat L, Libé R, Assié G, Tabarin A, Kamenicky P, Pasmant E, Fragoso M, Stratakis C, Ragazzon B, Bertherat J.   +22 more
europepmc   +1 more source

A case of congenital adrenal hyperplasia presenting as adrenal incidentaloma

, 2009
Myung-Jin Choi, Byoung Ho Kim, Kyoung Min Sohn, Ha Na Yang, Ohk Hyun Ryu, Moon Gi Choi, Hyung Joon Yoo   +6 more
openalex   +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

Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.

Endocr Rev
Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H.   +4 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
openaire   +4 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