Results 151 to 160 of about 401,716 (213)

Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report [PDF]

J Clin Res Pediatr Endocrinol
Rizzuto P, Gangat M, Khattab A, Marshall I.   +3 more
europepmc   +1 more source

Glucocorticoid reduction after starting crinecerfont in pediatric patients with classic congenital adrenal hyperplasia: practical perspectives.

J Clin Endocrinol Metab
Nokoff NJ, Fechner PY, Kim MS, Marshall I, Merke DP, Sarafoglou K, Hartzell AL, Lin VH, Thornton P.   +8 more
europepmc   +1 more source

Restoration of bone mineral density in a patient with congenital adrenal hyperplasia using hydrocortisone pump therapy. [PDF]

JCEM Case Rep
Gorrigan R, Todd B, Honour JW, Hindmarsh PC.   +3 more
europepmc   +1 more source

Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants. [PDF]

Arch Endocrinol Metab
Bala A, Banerjee S, George A, Srivastava P, Kumar M, Kc N, Yadav J, Kumar R, Dayal D.   +8 more
europepmc   +1 more source

Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Beniczky NJ, Magyar EL, Sallai Á, Jenővári Z, Sükösd Z, Vajda Z, Steenkamp YL, Szücs N, Bertalan R.   +8 more
europepmc   +1 more source

The Importance of Disease-specific Growth Charts for Children with Congenital Adrenal Hyperplasia.

J Clin Endocrinol Metab
Sarafoglou K, Mercado Munoz Y, Sukin C, Lteif A, Kyllo J, Miller BS, Addo OY, Merke DP.   +7 more
europepmc   +1 more source

Factors affecting the quality of life of adults living with congenital adrenal hyperplasia: a qualitative study of lived experience. [PDF]

Endocr Connect
James KL, Parkin N, Elford S, McKnight C, Phillips R, Pickles T, Ahmed SF, Krone N, Llahana S, O'Reilly MW, Tomlinson JW, Rees DA.   +11 more
europepmc   +1 more source

A Delayed Presentation of Salt-Wasting Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Deficiency in an Infant: A Case Report. [PDF]

Cureus
Ghareeb BM, Shakeeb FN, Busehail M, Alarrayedh M.   +3 more
europepmc   +1 more source

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Graves LE, Christina S, Mullany KL, Alexander IE, Falhammar H.   +4 more
europepmc   +1 more source

Short-Read NGS of a Long-Range <i>CYP21A2</i> Amplicon as an Improved Alternative to Sanger Sequencing for Congenital Adrenal Hyperplasia Genetic Testing. [PDF]

Int J Mol Sci
Antysheva Z, Bogdanov V, Rutkovskaya E, Stepanova A, Esibov A, Krupinova J, Shchekina V, Avsievich E, Frolova T, Bazarova E, Demina E, Sharibzhanova E, Bodunova N, Petryaykina E, Petriaikina E, Ivashechkin A, Katcaran Y, Bukhanova A, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Woroncow M, Skvortsova V, Volchkov P.   +24 more
europepmc   +1 more source