نتایج جستجو برای: hydroxylase Deficiency
تعداد نتایج: 152075 فیلتر نتایج به سال:
In this study the data on 115 cases of congenital adrenal hyperplasia (CAH) who were followed in the Pediatric Endocrine Clinic at Nemazee Hospital, Shiraz will be reported. Among these cases 51 were male and 64 female. The most common type of CAH in these patients was the salt-losing type of 21 -hydroxylase deficiency (85 .2%). ll-hydroxylase deficiency was present in 13.04% of patients. ...
in this study the data on 115 cases of congenital adrenal hyperplasia (cah) who were followed in the pediatric endocrine clinic at nemazee hospital, shiraz will be reported. among these cases 51 were male and 64 female. the most common type of cah in these patients was the salt-losing type of 21 -hydroxylase deficiency (85 .2%). ll-hydroxylase deficiency was present in 13.04% of patients. there...
تومور دو طرفه بیضه همراه با هیپرپلازی مادرزادی آدرنال و کمبود آنزیم 11-هیدروکسیلاز از بیمارستان امام
The development of testicular masses in male patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency has been recognized for many years. We present here the eighth and ninth reported patient with bilateral testicular tumors associated with 11 hydroxylase deficiency. They were two brothers aged 7.5 and 5 yr. who had bilateral testicular tumors and diagnosed because of signs...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).
background: phenylketonuria (pku) is an autosomal recessive disease of phenylalanine metabolism that brings deficiency of the enzyme phenylalanine hydroxylase (pah). early diagnosis is very important to prevent complications. this study was designed to describe characteristics of patients with phenylketonuria in mazandaran province in northern iran. methods: we studied 24 cases suffering from p...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than 40 patients worldwide. To recapitulate all available evidence on clinical phenotypes and rational diagnostic and therapeutic approaches for this devastating, but treatable, neurometabolic disorder, we studied 36 pati...
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hyp...
in this study, 285 cases of congenital adrenal hyperplasia who were followed in the tehran university hospitals and institute of endocrinology and metabolism arc reported. among these cases, 165 (57.9%) were female and 120 (42.1%), male. the most common type of congenital adrenal hyperplasia in these patients was the salt-losing type of 21-hydroxylase deficiency (57.9%); 11-hydroxylase deficien...
Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most com...
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated a...
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