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adrenal hyperplasia

Screening for Congenital Adrenal Hyperplasia: The Delfia Screening Test Overestimates Serum 17-Hydroxyprogesterone in Preterm Infants

Screening for Congenital Adrenal Hyperplasia: The Delfia Screening Test Overestimates Serum 17-Hydroxyprogesterone in Preterm Infants

... Overestimates Serum 17-Hydroxyprogesterone in Preterm Infants Screening for Congenital Adrenal Hyperplasia: The Delfia Screening Test. Services[r] ...

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Congenital  Adrenal Hyperplasia in Saudi Arabia

Congenital Adrenal Hyperplasia in Saudi Arabia

... of adrenal crisis and shock resulting from cortisol and mineralocorticoid ...of adrenal hyperplasia should receive an intravenous (IV) bolus of isotonic sodium chloride solution (20 ml/kg) over the ...

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Congenital Adrenal Hyperplasia: Neonatal Mass Screening Compared With Clinical Diagnosis Only in the Emilia-Romagna Region of Italy, 1980-1995

Congenital Adrenal Hyperplasia: Neonatal Mass Screening Compared With Clinical Diagnosis Only in the Emilia-Romagna Region of Italy, 1980-1995

... Congenital Adrenal Hyperplasia: Neonatal Mass Screening Compared With Clinical. http://pediatrics.aappublications.org/content/98/3/362[r] ...

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The molecular biology of hypertensive congenital adrenal hyperplasia

The molecular biology of hypertensive congenital adrenal hyperplasia

... Congenital lipoid adrenal hyperplasia is the rarest and most severe form of CAH and is caused by inability to convert cholesterol to pregnenolone. Only around 30 cases have been reported, of whom only 11 ...

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Psychosocial outcome in women with congenital adrenal hyperplasia

Psychosocial outcome in women with congenital adrenal hyperplasia

... would represent a central focus for the experiences of living with the chronic condition of congenital adrenal hyperplasia and this has been supported. In contrast, living with diabetes has been ...

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OCCURRENCE OF CONGENITAL ADRENAL HYPERPLASIA IN HALF SISTERS

OCCURRENCE OF CONGENITAL ADRENAL HYPERPLASIA IN HALF SISTERS

... If adrenal hyperplasia is determined by a single, autosomal recessive gene, as indi- cated by Childs et al.,’ then the mother in the family reported here must have married two men who ea[r] ...

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Management of the Adult with Congenital Adrenal Hyperplasia

Management of the Adult with Congenital Adrenal Hyperplasia

... Copyright © 2010 Richard J. Auchus. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...

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Congenital adrenal hyperplasia with cholestatic jaundice

Congenital adrenal hyperplasia with cholestatic jaundice

... adrenocorticotropic hormone (ACTH) and secondary adrenal hyperplasia. An enzymatic defect in 11- beta-hydroxylase is the second most common variant of CAH, 1 and accounts for less than 5% of cases. 2 ...

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Technical Report: Congenital Adrenal Hyperplasia

Technical Report: Congenital Adrenal Hyperplasia

... congenital adrenal hyperplasia (CAH), including the current status of pre- natal diagnosis and treatment, the benefits and problem areas of neonatal screening programs, and the manage- ment of children with ...

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Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review

Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review

... Testicular adrenal rests tumor (TART) is a rare kind of benign tumor in the testis, which occurs mainly second- ary to congenital adrenal hyperplasia (CAH), an auto- somal recessive disorder with a ...

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URINARY EXCRETION OF GONADOTROPINS IN CONGENITAL ADRENAL HYPERPLASIA

URINARY EXCRETION OF GONADOTROPINS IN CONGENITAL ADRENAL HYPERPLASIA

... These findings suggest that the compensatory pituitary hyperactivity in con- genital adrenal hyperplasia is not limited to the pi- tuitary-adrenal mechanism but has repercussions in gona[r] ...

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DEATHS IN CONGENITAL ADRENAL HYPERPLASIA

DEATHS IN CONGENITAL ADRENAL HYPERPLASIA

... She was admitted to the hospital where the diag nosis of viilizing adrenal hyperplasia of the salt-losing type was made on the basis of urinary excretion of 17-ketosteroids ranging from [r] ...

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Nonclassic Congenital Adrenal Hyperplasia

Nonclassic Congenital Adrenal Hyperplasia

... Nonclassic congenital adrenal hyperplasia is a common auto- somal recessive disorder that can present in childhood, ado- lescence, and adulthood. The typical symptoms of hirsutism, oligomenorrhea, ...

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Two cases of male patients followed for a classical form of congenital adrenal hyperplasia (CAH), presenting an azoospermia: analysis and review of the literature

Two cases of male patients followed for a classical form of congenital adrenal hyperplasia (CAH), presenting an azoospermia: analysis and review of the literature

... Congenital hyperplasia of the adrenal glands is a rare pathology, which can have an impact on male ...showed adrenal testicular inclusions invading the 4/ 5th of the testis with a hypergonadotropic ...

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Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia

Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia

... congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an impor- tant complication leading to gonadal dysfunction and ...

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Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

... Although the causes of death and/or the concomitant circumstances resulting in death have not been clarified in some of our cases, we assume that inadequate adaptation of the glucocorticoid dosage is likely in most ...

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Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

... TARTs produce adrenal-specific steroids, contain adrenal-specific enzymes, and express ACTH and angiotensin II receptors [73]. Therefore, the first-line of treatment in a patient with a TART is to increase ...

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Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

... The p.Arg188Cys variant was previously reported in two 46,XY brothers with normal male genitalia and des- cended testes, belonging to a consanguineous Pakistani family [12]. The older boy developed hyperpigmentation at ...

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Variable Efficacy of Glucocorticoids in Congenital Adrenal Hyperplasia

Variable Efficacy of Glucocorticoids in Congenital Adrenal Hyperplasia

... On the other hand, this study suggests that when dexamethasone is given in doses of equivalent glucocorticoid potency, the ACTH-suppressing potency is about twice that of cortisol. Other[r] ...

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HORMONE PATTERNS IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

HORMONE PATTERNS IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

... In this table are shown the 17-hydroxycorticosteroid plasma concentrations before and at 2, 8 and 24 hours after the administration of a test dose of cortisone in each of five untreated [r] ...

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