Results 21 to 30 of about 26,513 (179)

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.   +3 more
core   +1 more source

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

JCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis

Biomolecules, 2023
This study reports on the synthesis and evaluation of novel compounds replacing the nitrogen-containing heterocyclic ring on the chemical backbone structure of cytochrome P450 17α-hydroxylase/12,20-lyase (CYP17A1) inhibitors with a phenyl bearing a ...
Tomasz M. Wróbel, Katyayani Sharma, Iole Mannella, Simonetta Oliaro-Bosso, Patrycja Nieckarz, Therina Du Toit, Clarissa Daniela Voegel, Maria Natalia Rojas Velazquez, Jibira Yakubu, Anna Matveeva, Søren Therkelsen, Flemming Steen Jørgensen, Amit V. Pandey, Agnese C. Pippione, Marco L. Lolli, Donatella Boschi, Fredrik Björkling   +16 more
doaj   +1 more source

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka = Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia [PDF]

, 2018
Absztrakt: A congenitalis adrenalis hyperplasiát 7 monogénes genetikai betegség összességének tekintjük, melyekből az egyik a szteroid-21-hidroxiláz-deficientia.
Doleschall, Márton, Halász, Zita, Patócs, Attila Balázs, Márton Doleschall, Fekete, György, Katalin Mészáros, Tóth, Miklós, Szücs, Nikolette, Nikolette Szücs, Attila Patócs, Zita Halász, Mészáros, Katalin, Krisztina Németh, Igaz, Péter, Sólyom, János, Patócs, Attila, Miklós Tóth, Dóra Török, Péter Igaz, János Sólyom, Andrea Luczay, Kiss, Róbert, György Fekete, Németh, Krisztina, Judit Tőke, Róbert Kiss, Tőke, Judit, Török, Dóra, Luczay, Andrea   +28 more
core   +1 more source

An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency [PDF]

The Journal of Molecular Diagnostics, 2001
Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), a group of inborn errors of adrenal steroid biosynthesis. 1 Approximately 1 in 14,000 newborns is affected with the classic form of the disease. A milder, late-onset or non-classic form that is clinically evident in approximately 1 in 1000 females also
C E, Keegan, A A, Killeen
openaire   +2 more sources

Identification of steroid sulfate transport processes in the human mammary gland [PDF]

, 2003
Circulating hormones and local biotransformation of steroid precursors are both sources of estrogen in human mammary tissue. Estrone-3-sulfate (E(1)S) is an important estrogenic form in premenopausal women, and dehydroepiandrosterone sulfate (DHEAS ...
Pizzagalli, F., Meier, P. J., Varga, Z., Huber, R. D., Folkers, G., St-Pierre, M. V.   +5 more
core   +1 more source

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga, Yukihiro Hasegawa, Yukihiro Hasegawa   +2 more
doaj   +1 more source

Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

Frontiers in Pediatrics, 2020
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio   +7 more
doaj   +1 more source

Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2015
Context: Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls.
Adina F, Turcu, Juilee, Rege, Robert, Chomic, Jiayan, Liu, Hiromi K, Nishimoto, Tobias, Else, Andreas G, Moraitis, Ganesh S, Palapattu, William E, Rainey, Richard J, Auchus   +9 more
openaire   +2 more sources

Expression of Key Androgen-Activating Enzymes in Ovarian Steroid Cell Tumor, Not Otherwise Specified

Journal of Investigative Medicine High Impact Case Reports, 2020
To characterize the expression of steroidogenic enzymes implicated in the development of ovarian steroid cell tumors, not otherwise specified (SCT-NOS). We present 4 ovarian SCT-NOS evaluated by immunohistochemical staining of steroidogenic enzymes as an
Evana Valenzuela Scheker MD, Amita Kathuria MD, Ashwini Esnakula MD, Hironobu Sasano MD, Yuto Yamazaki MD, Sergei Tevosian PhD, Richard J. Auchus MD, PhD, Hans K. Ghayee DO, Gauri Dhir MD   +8 more
doaj   +1 more source