Results 101 to 110 of about 32,144 (200)

Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia [PDF]

, 1999
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.
Barta, Csaba, Fekete, György, Ferenczi, Anna, Garami, Miklós, Kiss, Eszter, Pék, Mónika, Sasvári-Székely, Mária, Staub, Mária, Sólyom, János   +8 more
core   +1 more source

Mielolipoma adrenal gigante associado à deficiência da 21-hidroxilase: associação não usual simulando um carcinoma adrenocortical secretor de androgênios [PDF]

, 2010
The objective of this study was to describe a case of giant myelolipoma associated with undiagnosed congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency.
CASTRO, Margaret de, ELIAS JUNIOR, Jorge, ELIAS, Paula C. Lamparelli, MERMEJO, Lívia Mara, MOREIRA, Ayrton Custódio, SAGGIORO, Fabiano Pinto, TUCCI JUNIOR, Silvio   +6 more
core   +2 more sources

Case report: Clitoromegaly as a consequence of Congenital Adrenal Hyperplasia. An accurate medical and surgical approach

Urology Case Reports, 2018
We present a case of a woman with a history of Congenital Adrenal Hyperplasia (CAH) diagnosed at the age of 12, who was referred to our unit for surgical treatment.
Augusto Rafael Fernandez-Aristi, Andre Alonso Taco-Masias, Luis Montesinos-Baca   +2 more
doaj   +1 more source

Adrenogenital syndrome: molecular mechanisms of development [PDF]

, 2017
Резюме. На довгому, багатоступінчастому шляху біосинтезу стероїдних гормонів від холестеролу до кортизолу, тестостерону й естрадіолу внаслідок мутацій генів виникає недостатність ферментів стероїдогенезу в надниркових залозах: холестерол-десмолази, 3β ...
Пішак, В.П., Ризничук, М.О.   +1 more
core   +1 more source

Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples [PDF]

, 2011
The deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be
Baptista, C, Carrilho, F, Carvalheiro, M, Gonçalves, J, Paiva, S, Ruas, L, Silva, J, Vieira, A   +7 more
core  

A model for measuring the health burden of classic congenital adrenal hyperplasia in adults [PDF]

, 2016
This is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.Aim: Patients with classic Congenital Adrenal Hyperplasia (CAH) have poor health outcomes.
Ara, RM, Dixon, S, Hummel, SR, Ross, RJ, Sadler, S, Whitaker, MJ   +5 more
core   +1 more source

AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia

Molecular Therapy: Methods & Clinical Development
Despite the availability of life-saving corticosteroids for 70 years, treatment for adrenal insufficiency is not able to recapitulate physiological diurnal cortisol secretion and results in numerous complications.
Lara E. Graves, Eva B. van Dijk, Erhua Zhu, Sundar Koyyalamudi, Tiffany Wotton, Dinah Sung, Shubha Srinivasan, Samantha L. Ginn, Ian E. Alexander   +8 more
doaj   +1 more source

Is physiological glucocorticoid replacement important in children? [PDF]

, 2017
Cortisol has a distinct circadian rhythm with low concentrations at night, rising in the early hours of the morning, peaking on waking and declining over the day to low concentrations in the evening.
Arlt, Balsalobre, Bancos, Begum, Bleicken, Browne, Charmandari, Charmandari, Charmandari, Crown, de Weerth, de Weerth, Debono, Debono, DeVile, Diabetes, Dunlap, Dunlop, Désir, Finkielstain, Gagliardi, Gan, Ghizzoni, Gilban, Giordano, Guyon, Han, Han, Hansen, Hastings, Hermida, Hindmarsh, Hindmarsh, Iwata, Joanne Blair, Johannsson, Johannsson, John Porter, Jonetz-Mentzel, Khanna, Knutsson, Kupperman, Lashansky, Leproult, Maguire, Maguire, Mallappa, McClung, Miller, Moreira, Moreira, Moreira, Morris, Peacey, Perry, Peters, Price, Quirós, Reutrakul, Richard J Ross, Santiago, Shirtcliff, Simon, Speiser, Spiegel, Steudte-Schmiedgen, Stroud, Tiemensma, Tuli, Van Cauter, Veldhuis, Vyas, Völkl, Wadhwa, Wallace, Whitaker, Whitaker, White, Williams, Wood, Wright, Zimmermann   +81 more
core   +1 more source

Study of awareness of adrenal disorders among interns and postgraduate students of Hamidia Hospital, Bhopal

Indian Journal of Endocrinology and Metabolism, 2017
Introduction: Adrenal disorders could be a life-threatening emergency, hence requires immediate therapeutic management. For this awareness regarding its diagnosis, management, and treatment is prime important.
Sachin Chittawar, T N Dubey, Jitendra Sharma, Sagar Khandare   +3 more
doaj   +1 more source

Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency : a Swedish population-based national cohort study [PDF]

, 2017
CONTEXT: Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity.
Almqvist, Catarina, Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica L., Nordenskjöld, Agneta, Nordenström, Anna, Norrby, Christina   +6 more
core   +1 more source