Results 111 to 120 of about 119,945 (311)

Nonclassical 21-Hydroxylase Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2006
AbstractContext: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews,
openaire   +1 more source

Predominance of Ferroptotic Cell Death Mechanisms in Substantia Nigra Neurodegeneration in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng, Anusha Jayaraman, Richard Reynolds, Jia Nee Foo   +3 more
wiley   +1 more source

Glucocorticoid Dose and Type are Associated with Depression Scores in Youth with Classical Congenital Adrenal Hyperplasia

JCRPE
Objective: Adults with classical congenital adrenal hyperplasia (CAH) exhibit a higher lifetime prevalence of depression, but little is known about onset or etiology of mood disorders in this population.
Mark Chih-Wei Liang, Nicole Fraga, Nare Minaeian, Megan M. Herting, Mitchell E. Geffner, Tania A. S. S. Bachega, Mimi S. Kim   +6 more
doaj   +1 more source

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort [PDF]

, 2013
Context: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking.Objective: The objective of the study was to test whether the ...
, Arlt, Wiebke, Carroll, Paul V., Conway, Gerry S., Doherty, Emma J., Hahner, Stefanie, Han, Thang S., Hodson, James, Krone, Nils, MacDonald, Fiona, Parajes, Silvia, Rose, Ian T., Ross, Richard J., Stimson, Roland H., Walker, Brian R., Wild, Sarah H., Willis, Debbie S.   +16 more
core   +2 more sources

Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]

, 2016
Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana, Gonçalves, João, Kay, Teresa, Lopes, Lurdes, Lurdes de Matos, Maria   +4 more
core  

Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

Ожирение и метаболизм, 2019
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ...
Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova   +4 more
doaj   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Molecular Genetics & Genomic Medicine, 2019
Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms.
Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga   +6 more
doaj   +1 more source

Recurrent haematuria; a rare presentation of 46XX Congenital adrenal hyperplasia presenting late and reared as males – two cases

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2019
Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by a defect in enzymes involved in biosynthesis of cortisol, aldosterone or both. We report two patients presented with recurrent haematuria with two
D. Karuppiah, P. Pathirana, S. Dilakkumar, A. S. Pallewatte, M. Pravinson, M. Mithusha   +5 more
doaj   +1 more source

Adrenal Crisis [PDF]

, 2019
Glucocorticoid replacement therapy, available since the 1950s, has prolonged the survival of patients with adrenal insufficiency. However, adrenal crises, which are life-threatening medical emergencies, still develop in many affected patients.
Falhammar, Henrik, Rushworth, R Louise, Torpy, David J   +2 more
core   +1 more source