نتایج جستجو برای: congenital adrenal hyperplasia cah

تعداد نتایج: 200998  

Journal: :Frontiers in Endocrinology 2023

Background Dysfunction in the hypothalamic-pituitary-adrenal axis has been associated with depressive and anxiety disorders. Little is known about risk for these disorders among individuals congenital adrenal hyperplasia (CAH), a form of primary insufficiency. Objective We investigated prevalence antidepressant prescriptions two large healthcare databases insured children, adolescents, young ad...

2015
Kansuda Ariyawatkul Patra Yeetong Somchit Jaruratanasirikul Kah Yin Loke Pairunyar Nakavachara Chawkaew Kongkanka Taninee Sahakitrungruang

Aims Mutations in Steroidogenic Acute Regulatory protein (StAR) cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt loss, 46,XY sex reversal and massively enlarged adrenals engorged with cholesterol esters. Nonclassic lipoid CAH is a recently recognized disorder caused by StAR mutations that retain partial function. We aim t...

2013
Lisandro Ariel Piaggio

Congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency is the most common type of disorder of sex development. This review will focus on CAH addressing historical and current surgical techniques with their anatomical foundations, with special attention to long-term results and outcomes on sexual function, patient satisfaction, patient attitude toward surgery, and on...

Journal: :The Medical journal of Malaysia 2007
A G Rohana Wong Ming S Norlela M K Norazmi

We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with ...

Journal: :international journal of fertility and sterility 0
yan-kun sha yan-wei sha lu ding wei-wu liu yue-qiang song jin lin

21-hydroxylase deficiency (21-ohd) caused congenital adrenal hyperplasia (cah) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (co) synthesis in the adrenal glands. testicular adrenal rest tumors (tarts) are rarely the presenting symptoms of cah. here, we describe a case of simple virilizing cah with tarts, in a 15-year-old boy. the p...

Journal: :Archives in neurology & neuroscience 2022

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies enzymes involved in steroidogenesis. Clinical manifestations depend on the degree cortisol and aldosterone deficiency. The salt-wasting form can present as medical emergency with severe hyponatremic dehydration, hyperkalemia, polyuria hyperpigmentation. However, recent years, patients CAH presenting a...

Journal: :acta medica iranica 0
"moayeri h "

in this study 93 hirsute females (ferryman and gallway score > 8) referred to institute of endocrinology & metabolism and office were assessed. baseline testosterone (tes), dehydroepiandrosterane sulfate (dhea-so4). follicular stimulating hormone (fsh). leuteinizing hormone (lh), prolactin (prl), thyroid stimulating hormone (tsh), baseline 17 hydroxyprogesterone (17 ohp) and in some cases acth ...

Journal: :JPMA. The Journal of the Pakistan Medical Association 2009
Aysha Habib Khan Muniba Aban Rameez-ul-Hassan Naeem-ul-Haq Jamal Raza Abdul Jabbar Tariq Moatter

Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH). This results in deficient cortisol, increased ACTH, adrenal hyperplasia and increased adrenal androgen secretion. There is marked virilization in genetic females which is the hallmark of this disorder. Genetic heterogeneity in 21 OHD is well recognized, and both severe ...

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