نتایج جستجو برای: hydroxylase adrenal hyperplasia

تعداد نتایج: 99554  

2017
Ruben Wesselius Mirjam Schotman Martje Schotman Alberto M. Pereira

Congenital adrenal hyperplasia (CAH) can affect sex characteristics. The most common cause of CAH is 21-hydroxylase deficiency, and the cornerstone of treatment is glucocorticoid replacement in adrenocorticotropic hormone-suppressive dosages. A 64-year-old patient (46XX) with CAH resulting from 21-hydroxylase deficiency had been treated with dexamethasone and testosterone since diagnosis at age...

جواد احمدی, , سید محمدحسن صمدی, , عبدالمجید کجباف زاده, , مهدی کلانتری, ,

Ambiguous genitalia means difference between gonads morphology and external genitalia. Gender assignment and surgical correction must be done as early as possible to assure unambiguous bonding between the parents and the child. The purpose of this study was to evaluate Ambiguous genitalia in a referral children surgical center.Materials and Methods: We retrospectively reviewed records of 200 pa...

2009
Ingrid Nermoen Ivar Følling Kjetil Vegge Arne Larmo Bjørn Gunnar Nedrebø Eystein Sverre Husebye Kristian Løvås

We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. The masses were not removed since myelolip...

Journal: :Human reproduction 2001
H Murphy C George D de Kretser S Judd

Congenital adrenal hyperplasia (CAH) is a well-recognized, but uncommon, cause of azoospermia and infertility in men. Commonly this is due to undertreatment of excessive adrenal androgen secretion which suppresses gonadotrophin stimulation of the testes. A less common complication of CAH is development of adrenal tissue within the testes; this is important to recognize because it may be confuse...

Journal: :international journal of reproductive biomedicine 0
azam ghanei golnaz mohammadzade ehsan zarepur sedigheh soheilikhah

background: congenital adrenal hyperplasia (cah) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. classic cah is determined by ambiguous genitalia and increase in amount of 17-hydroxyprogesterone. simultaneous occurrence of cah and vanishing testes is a rare condition. case: a 22-year-old boy, known case of cah who was diagnosed as female pseudohe...

Journal: :The New England journal of medicine 1956
W P PLATE

Congenital adrenal hyperplasia (CAH), also termed adrenogenital syndrome in older literature, is a common inherited form of adrenal insufficiency. This group of diseases is due to mutations (genetic defects) in the genes coding for several enzymes needed for the production of adrenal cortex hormones. About 95% of cases of CAH are caused by 21-hydroxylase deficiency. This enzyme is necessary for...

Journal: :Open Access Macedonian Journal of Medical Sciences 2023

Background: Congenital adrenal hyperplasia (CAH) can lead to bilateral tumors. Excess adrenocorticotropic hormone is thought play a role in the development of nodules. Here we present patient with simple virilizing form 21-hydroxylase deficiency, married man, tumors, and 46-XX chromosomes.Case report: 39-year-old man suffered from abdominal pain tension. Abdominal tomography showed macronodular...

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