نتایج جستجو برای: congenital adrenal hyperplasia cah
تعداد نتایج: 200998 فیلتر نتایج به سال:
سابقه و هدف: هیپرپلازی مادرزادی آدرنال (congenital adrenal hyperplasia: cah) یک اختلال اتوزومال مغلوب با وقوع 1:15.000 می باشد که گاهی تحت عنوان سندرم آدرنوژنیتال نیز نامیده می شود. این اختلال که در طی دوره جنینی روی می دهد، نتیجه نقایص ارثی در بیوسنتز کورتیزول می باشد. تولید بیش از حد adreno corticotropic hormone (acth) که به صورت جبرانی توسط جنین به منظور غلبه بر کمبود کورتیزول صورت می گیرد، ...
Introduction: Congenital adrenal hyperplasia (CAH) patients especially females are at increased risk for developing obesity and resistance to insulin (IR). Rising evidence indicate that insufficient vitamin D levels associated with impaired function of β-cells islets Langerhans IR, however, this finding hasn’t been investigated in CAH. The aim was identify the status pubertal CAH, following up ...
Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...
Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...
BACKGROUND Classic congenital adrenal hyperplasia (CAH) requires lifetime steroid replacement and supraphysiologic glucocorticoid dose is often required for adequate adrenal androgen suppression. Patients often suffer from long-term co-morbidities and female infertility is common. CASE PRESENTATION We report the use of laparoscopic bilateral adrenalectomy as a treatment for a 21 year old fema...
This presentation discusses newborn screening for congenital adrenal hyperplasia (CAH) which is available in most developed countries. Early detection and hormone replacement prevents the progression of salt-wasting crises that can become life-threatening first two weeks life. Screening by 17-hydroxyprogesterone immunoassay sensitive disease but confounded poor specificity premature ill neonate...
Introduction Congenital Adrenal Hyperplasia (CAH) is a life threatening requiring good parental knowledge, in order to manage the daily care and any clinical problems arise. The impact of the condition is significant regardless of cultural background, with near death experiences and genital ambiguity occurring. Parents need to adjust to the burdens, that having a child with CAH creates, for all...
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH, impairing adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR), a protein that plays an essential role in cholesterol transfer from the outer to inner mitochondrial membrane, thus providing the substrate ...
Congenital adrenal hyperplasia (CAH) during pregnancy is a rare condition. Only a few cases have been reported in the literature. CAH patients has lower pregnancy rate compared to normal women. A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilising form of classic CAH visited. She got pregnant spontaneously without any trial of assisted reproductive tech...
Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CAH have an increased risk to develop health problems during adult life, with si...
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