Results 11 to 20 of about 32,087 (214)
Congenital adrenal hyperplasia [PDF]
Dermato-Endocrinology, 2009 Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency.
Dessinioti, Cleo, Katsambas, Andreas
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11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2023 Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen ...
Bipesh Kumar Shah +4 more
doaj +1 more source
Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant
Folia Medica Indonesiana, 2022 Highlight: • The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with Adrenal crisis (AC) case report. • Adrenal crisis (AC) is a life-threatening emergency that contributes to the high death rate of children with adrenal ...
Nur Rochmah +4 more
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Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY
Frontiers in Genetics, 2022 Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song +12 more
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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
Congenital Adrenal Hyperplasia [PDF]
F1000Research, 2015 Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years,
PSN Menon, Anurag Bajpai
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NEUROBLASTOMA IN A CASE OF CONGENITAL ADRENAL HYPERPLASIA
Hematology, Transfusion and Cell Therapy, 2021 Case report: The majority of neuroblastomas are sporadic and not correlated with any specific constitutional germline chromosomal abnormality, inherited predisposition, or associated congenital anomalies.
Arzu Yazal Erdem +5 more
doaj +1 more source
Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]
, 2018 Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio +25 more
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2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria [PDF]
, 2020 Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal ...
Fazeli, Nasrin +4 more
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Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
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