CAH, congenital adrenal hyperplasia
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany
... deceased CAH children (n = 13) were besides their family doctor or paediatrician also under the care of a centre with a paediatric ...as CAH-SV patients who were detected at birth by ambiguous genitalia had ...
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Measurement of serum tenascin X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH X
... with CAH carry a 30-kb CYP21A2 deletion extending into the flanking TNXB gene on at least one allele causing a contiguous gene deletion syndrome termed CAH-X [9, ...with CAH-X suffer from CAH ...
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Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population
... Health related problems often mentioned by parents in all age groups are weight loss, severe somnolence, accel- erated growth/development, inability to retain fluids and lack of appetite. About 31% of the children had ...
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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
... Background: Congenital hyperplasia of the adrenal glands is a rare pathology, which can have an impact on male ...of congenital adrenal ...showed adrenal testicular inclusions ...
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Assessment of cardiac function in children with congenital adrenal hyperplasia: a case control study in Cameroon
... with CAH, show ventricular hypertrophy and impaired left ventricular function pre- cisely the diastolic one by significant prolongation of both iso volumetric relaxation time and mitral deceler- ation time [9 – ...
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Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia
... of adrenal specific 11 β -hydroxylated steroids such as 21-deoxycorticosterone (21DB) and 21-deoxycortisol (21DF) in blood taken from the gonadal veins ...of adrenal-like tissue in the testes of these ...
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Nonclassic Congenital Adrenal Hyperplasia
... compound heterozygotes bearing di ff erent CYP21A2 muta- tions on each allele. The missense mutation, V281L, accounts for at least one of the CYP21A2 alleles for most patients with NCAH. This genetic variant is commonly ...
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Technical Report: Congenital Adrenal Hyperplasia
... should not be treated or should be treated only with extreme caution. Patients should be referred to cen- ters with expertise in the prenatal management of pregnancies at risk for CAH. Treatment should be ...
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Congenital adrenal hyperplasia with cholestatic jaundice
... Congenital Adrenal Hyperplasia is a rare disease with an incidence of common variety of CAH of only 1:16000 to 1:20000 live ...for CAH, we present one of the rarer forms; 11-beta ...
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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
... In this study, we retrospectively reviewed the sono- graphic characteristics of TART in 8 CAH patients, and further analyzed 123 CAH patients from the literature. The TARTs were described mainly in several ...
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Management of the Adult with Congenital Adrenal Hyperplasia
... cited. Congenital adrenal hyperplasia (CAH), most commonly due to 21-hydroxylase deficiency (21OHD), has been studied by pediatric endocrinologists for ...about CAH in ...
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Congenital Adrenal Hyperplasia in Saudi Arabia
... severe CAH due to deficiencies of 21- hydroxylase, 11 b-hydroxylase and 3-beta- hydroxysteroid-degydrogenase have ambig- uous genitalia, ...virilizing adrenal hyperplasia), or even present in ...
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Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study
... Because CAH screening results in many false positives in preterm infants [2], we used cut-off criteria for pre- term infants and low birth weight infants that were higher than those used for term ...
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Clitoral size in term newborns in Kumasi, Ghana
... [1]. Congenital adrenal hyperplasia (CAH) is the most com- mon cause of virilization of a female ...fatal adrenal crisis, an avoidable outcome if the endocrine emergency is correctly ...
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Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient
... lipoid CAH all lie between amino acids 169 and 275 (1), and these tend to be the residues most highly conserved in the related protein, START (1) for STAR-related lipid binding ...
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Prenatal Treatment of Congenital Adrenal Hyperplasia: Author Differs With Technical Report
... of congenital adrenal hyperplasia (CAH) with dexamethasone, namely that “spontane- ous abortion, fetal demise during late pregnancy, intrauterine growth retardation, liver steatosis, ...
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Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review
... gonadal steroid hormones, which further leads to the dysfunction of the sex hormones and a decrease in glu- cocorticoids. Therefore, the disease is a type of special congenital adrenal hyperplasia ...
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Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy
... DOC-producing adrenal tumours, which should be considered in adult patients with adrenal tumours and apparent mineralocorticoid resistant hypertension with low aldosterone and renin ...
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DEFECTIVE STEROIDAL BIOGENESIS IN CONGENITAL ADRENAL HYPERPLASIA
... is uniml)ortant and should be ignored... Relative excretion of tetrahydrocortisone and pregiianetriol I))’ control 511i)ject5 and patients with congenital adrenal hvperplasia. As far as [r] ...
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Newborn Screening Fact Sheets
... deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain ...
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