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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

... The 21 hydroxylase deficiency is the most common enzyme defect causing congenital adrenal hyperplasia (CAH). It is distinguished by the severity of the enzyme defect, in ...

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21 hydroxylase deficiency

... with congenital adrenal hyperplasia due to 21-hydroxylase ...vivo 21-hydroxylase activity, such as 17-hydroxyprogesterone, aldosterone, ...

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Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

... In the present study, long-term cosmetic and functional reproductive outcomes of women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency were subop- ...

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Obesity Among Children and Adolescents With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Obesity Among Children and Adolescents With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

... OBJECTIVES. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common inherited disorder of adrenal steroid ...

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Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden

Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden

... assignment in virilized girls, and detection of patients who would have otherwise been missed in the neonatal period. Deaths in the neonatal period were prevented by screening. The aim of the screening program was to ...

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Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

... To our knowledge, only three published studies have analyzed prenatal growth in newborns with CAH due to 21-hydroxylase (21-OH) deficiency. The first study reported normal birth weight ...

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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

... This case illustrates that measurements of 17- OHP concentration in amniotic fluid could be helpful in the early prenatal diagnosis of severe CAH due to 21-hydroxylase deficiency.. Our o[r] ...

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Adrenocortical Tumor in a Patient with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Adrenocortical Tumor in a Patient with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

... Initially elevated urinary 17-ketosteroid and serum steroid levels were decreased by high dose dexa- methasone therapy, and at laparotomy an adenoma was found in the cortex of the hyperp[r] ...

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Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

... Fujieda K, Matsuura N, Takasugi N, et al: Five years of newborn screening program for congenital adrenal hyper- plasia in Japan, in Therell BL (ed): Proceedings ofthe Sixth International[r] ...

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Rare and severe complications of congenital adrenal hyperplasia due to 21 hydroxylase deficiency: a case report

Rare and severe complications of congenital adrenal hyperplasia due to 21 hydroxylase deficiency: a case report

... CAH due to moderate 21-OH defi- ciency ...the adrenal cells were already maximally stimulated by chronically elevated ACTH and is corroborated by the nearly absent elevation of ...

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An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

... 7.4. Delaying Pubertal Development. Central precocious puberty develops in children with CAH when adequate suppression of ACTH (and androgens) follows a period of chronic adrenal androgen overexposure due ...

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A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency

... Pregnant women with CAH are best followed jointly by endocrinologists and obstetricians, while continuing their prepregnancy doses of hydrocortisone/prednisolone and fludrocortisone therapy. GC doses often need to be ...

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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

... corticoid deficiency results in failure of the body ’ s com- pensation ...occurs due to constant fluid loss, ...acute adrenal crisis in the presence of acute gastroenteritis due to dehydration ...

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Detection of Late-Onset 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia in Adolescents

Detection of Late-Onset 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia in Adolescents

... The base line elevated testosterone level did not suppress to the normal range with the initial five-day dexamethasone suppression test but did suppress from 155 to 58 ng/dL with a 14-da[r] ...

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Bilateral Laparoscopic Adrenalectomy as a Treatment for Classic Congenital Adrenal Hyperplasia Attributable to 21-Hydroxylase Deficiency

Bilateral Laparoscopic Adrenalectomy as a Treatment for Classic Congenital Adrenal Hyperplasia Attributable to 21-Hydroxylase Deficiency

... endocrinologist every 3 months at our institution. Human leuko- cyte antigens typing confirmed the diagnosis of CAH, and allele- specific polymerase chain reaction and Southern blotting revealed the patient was a ...

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Congenital  Adrenal Hyperplasia in Saudi Arabia

Congenital Adrenal Hyperplasia in Saudi Arabia

... Fertility in females with congenital adrenal hyperplasia due to 21 hydroxylase deficiency reduced especially in classic salt- waster. (77,78) Several factors have been ...

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Assessment of cardiac function in children with congenital adrenal hyperplasia: a case control study in Cameroon

Assessment of cardiac function in children with congenital adrenal hyperplasia: a case control study in Cameroon

... classic congenital adrenal hyperplasia due to 21-hydroxylase ...classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin ...

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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

... et al. Reduced frequency of biological and increased frequency of adopted children in males with 21-hydroxylase deficiency: a Swedish population- based National Cohort Study. J Clin Endocrinol Metab. ...

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Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

... Congenital adrenal hyperplasia (CAH) is a genetic dis- ease caused by a deficiency of steroid hormone synthesis ...involving 21-hydroxylase deficiency [1], ...

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Management of the Adult with Congenital Adrenal Hyperplasia

Management of the Adult with Congenital Adrenal Hyperplasia

... the congenital adrenal hyperplasias (CAHs) are genetic defects in cortisol ...glucocorticoid deficiency and normalize both mineralocorticoid and androgen biosynthesis without inducing untoward effects ...

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