Results 21 to 30 of about 54,890 (322)
Congenital adrenal hyperplasia [PDF]
The Lancet, 2017 Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that ...
Wiebke Arlt +2 more
openaire +7 more sources
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
Journal of Nepal Medical Association, 2020 Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal +3 more
doaj +1 more source
SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION [PDF]
Romanian Journal of Pediatrics, 2017 Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease.
Roxana Tanase +5 more
doaj +1 more source
Hormones and Behavior, 2020 The ratio of length between the second and fourth fingers (2D:4D) is commonly used as an indicator of prenatal sex hormone exposure. Several approaches have been used to try to validate the measure, including examining 2D:4D in people with congenital ...
Gareth Richards +6 more
semanticscholar +1 more source
Adrenomedullary Function in Cohort of Brazilian Pediatric Patients with Classic Congenital Adrenal Hyperplasia [PDF]
, 2021 Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders resulting from deficiency of enzymes essential for the synthesis of cortisol. Disease of the adrenal cortex, but there may be involvement adrenomedullary. Cortisol and epinephrine
Beserra, Izabel Calland Ricarte +1 more
core +2 more sources
Праці Наукового товариства імені Шевченка. Медичні науки, 2017 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi ciency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone ...
Anna Nowak
doaj +1 more source
Does visual experience influence arm proprioception and its lateralization? Evidence from passive matching performance in congenitally-blind and sighted adults [PDF]
Neuroscience Letters, 2023, 137335, pp.137335, 2023 In humans, body segments' position and movement can be estimated from multiple senses such as vision and proprioception. It has been suggested that vision and proprioception can influence each other and that upper-limb proprioception is asymmetrical, with proprioception of the non-dominant arm being more accurate and/or precise than proprioception of ...
arxiv +1 more source
Endocrine Practice, 2020 Context: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Objective: To estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population. Data
I. Nermoen, H. Falhammar
semanticscholar +1 more source
Syrian females with congenital adrenal hyperplasia: a case series
Journal of Medical Case Reports, 2022 Background One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing ...
Nada Dehneh +4 more
doaj +1 more source
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy
International Journal of Neonatal Screening, 2020 Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years.
P. Held, I. Bird, N. Heather
semanticscholar +1 more source