Results 41 to 50 of about 32,144 (200)

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

, 2005
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, Hiort, O, Holterhus, PM, Hoppe, U, Marschke, C, Partsch, CJ, Riepe, FG, Struve, D, Werner, R   +8 more
core   +1 more source

Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia [PDF]

, 2020
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, Geffner, Mitchell E., Herting, Megan M., Kim, Mimi S., Kim, Robert, Tyszka, J. Michael   +5 more
core  

Congenital Adrenal Hyperplasia

Annals of Saudi Medicine, 1991
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 ...
H, Salman, A, Abanamy, B, Ghassan, M, Khalil   +3 more
openaire   +2 more sources

Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells

IJU Case Reports, 2020
Introduction Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal
Kanako Matsuoka, Yuichi Sato, Seiji Hoshi, Tomoyuki Koguchi, Soichiro Ogawa, Tomohiro Ishii, Nobuhiro Haga, Tomonobu Hasegawa, Yoshiyuki Kojima   +8 more
doaj   +1 more source

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency [PDF]

, 2010
Objective: Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency(ORD) present with disordered sex development and glucocorticoid deficiency.
Arlt, Bebia, Chang, de Morais, Dominique Maiter, Dorota Tomalik-Scharte, Fl  ck, Fuhr, Gomes, Hannah E Ivison, Henderson, Jetter, Julia Kirchheiner, Kelley, Kirchheiner, Kranendonk, Nebert, Nicolo, Parkinson, Porter, Ribes, Sachse, Tantcheva-Po  r, Tomalik-Scharte, Uwe Fuhr, Wiebke Arlt   +25 more
core   +2 more sources

NonClassic Congenital Adrenal Hyperplasia [PDF]

International Journal of Pediatric Endocrinology, 2010
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Witchel, Selma Feldman, Azziz, Ricardo
openaire   +4 more sources

Demographic Characteristics and Clinical Findings in Patients with Congenital Adrenal Hyperplasia in Isfahan City, Iran

مجله دانشکده پزشکی اصفهان, 2018
Background: Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia, which can be obscured by ambiguous genitalia, weight loss, and premature pubarche.
Ranasadat Saleh, Mahin Hashemipour
doaj   +1 more source

Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment

Quality in Sport
Introduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński, Marta Targońska, Adrianna Madej, Adrian Suława, Julia Furgalska, Sebastian Fedorowicz, Aneta Basiak, Aleksander Ptasiński, Rafał Niekurzak, Agnieszka Buczek   +9 more
doaj   +1 more source

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]

, 2017
With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F., Bryce, J., Jiang, J., Kourime, M., Nixon, R., Rodie, M.   +5 more
core   +1 more source

Adult congenital adrenal hyperplasia [PDF]

Postgraduate Medical Journal, 1966
CONGENITAL adrenal hyperplasia is a rare disease of adults. Probably the oldest recorded case in the literature is of a 57-year-old woman (Logan and McMillan, 1964) who presented as an abdominal emergency. Most of the published reports and standard references are concerned with the biochemical data and there is little suggestion of a characteristic ...
F, Carswell, R W, Logan, A, Allison
openaire   +2 more sources