Congenital Adrenal Hyperplasia
The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme ...
Mohammed N.A. Khalil+3 more
openaire +3 more sources
Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia [PDF]
Context: Classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency results in hormone imbalances present both prenatally and postnatally that may impact the developing brain.
Azad, Anisa+5 more
core
Cortisol and 17-hydroxyprogesterone levels in saliva of healthy neonates - Normative data and relation to body mass index, arterial cord blood pH and time of sampling after birth [PDF]
The measurement of cortisol and 17-hydroxyprogesterone (17-OHP) in saliva has become a reliable tool for both the scientist and the clinician for studying adrenal cortical function in the adult and the older child.
Dressendörfer, Regina+9 more
core +1 more source
Macronodular adrenal hyperplasia masquerading as an upper pole renal mass
Macronodular hyperplasia (MAH) of the adrenal gland is a rare disease usually presenting with Cushing Syndrome. Although usually readily apparent on imaging, an adrenal tumor in an asymptomatic patient may be mistaken for a renal tumor.
Jeunice Owens-Walton+4 more
doaj
BACKGROUND Recently discovered mutations of NR3C1 gene, encoding for the GR, in patients with glucocorticoid resistance and bilateral adrenal incidentalomas prompted us to investigate whether GR mutations might be associated with adrenal hyperplasia ...
G. Vitellius+9 more
semanticscholar +1 more source
Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Richard J. Auchus, Adina F. Turcu
openaire +3 more sources
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC+8 more
core +1 more source
Hypertension Due to Co-existing Paraganglioma and Unilateral Adrenal Cortical Hyperplasia
A rare case of combined unilateral adrenal hyperplasia and paraganglioma is reported. A 27-year-old woman presented with hypertension, palpitation, dizziness, and headache for about 3 months. Elevated plasma aldosterone with low renin and a high level of
Kuo-Hsuan Chiang+6 more
doaj +1 more source
Abstract Background CD163 is a scavenger receptor predominantly expressed on the surfaces of macrophages in various mammalian species and is a marker of anti‐inflammatory (M2‐like) macrophages. High density of CD163‐positive tumor‐associated macrophages (TAMs) is associated with worse prognosis in various patient tumors.
Yoichi Saito+9 more
wiley +1 more source
Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]
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.+2 more
core +1 more source