Results 21 to 30 of about 32,075 (146)

Reconstructive plastic surgery for congenital adrenal hyperplasia in girl [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2016
Congenital adrenal hyperplasia - congenital disease the cause of which is a genetic defect in the enzymes involved in the synthesis of corticosteroids, and transport proteins leading to hyperandrogenism and is accompanied by abnormalities of internal and
Daulet Zharassov
doaj   +1 more source

Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]

, 2010
Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique, Green-Golan, Liza, Leschek, Ellen, Merke, Deborah, Müller, Sven, Ng, Pamela, Sinaii, Ninet, VanRyzin, Carol   +7 more
core   +2 more sources

Growth Characteristics in Children with Congenital Adrenal Hyperplasia Visiting Tertiary Care Hospital, Karachi

Pakistan Armed Forces Medical Journal, 2023
Objective: To determine the growth characteristics in children with congenital adrenal hyperplasia visiting tertiary care hospital Karachi. Study Design: Cross-Sectional study.
Abdul Qayyum, Versha Rani Rai, Roshia Memom, Shazia Mahar, Taj Muhammad Laghari, Mohsina Noor Ibrahim   +5 more
doaj   +1 more source

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

Congenital lipoid adrenal hyperplasia [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein ...
Chan Jong Kim
doaj   +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 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

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