Congenital adrenal hyperplasia (Total 485564 Papers Found)

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic cytochrome P450 (CYP) type II enzymes. The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific e ...
From 1955 to 1988, 298 children suffering of ambiguous genitalia were operated upon in the Department of Pediatric Surgery, Hospital Necker-Enfants Malades, Paris. 187 were female pseudo-hermaphroditism (of which 85% congenital adrenal hyperplasia). 53 gonadal dysgenesis and 58 male pseudohermaphroditism--Feminizing genitoplasty, including relocation of the clitoris, published by us, in 1961, was made in 238 cases. It was for a long time the best procedure used, whatever be the etiology of inter ...
Congenital hepatic fibrosis (asymptomatic and latent form) was diagnosed in a 67-year-old male during laparotomy for a gastric ulcer. The gastrectomy specimen revealed multiple chronic ulcers with healing in the form of villous mucosal hyperplasia. The pathological diagnosis of congenital hepatic fibrosis and similar hamartomatous lesions is discussed. A possible relationship between congenital hepatic fibrosis and gastroduodenal ulceration is envisaged. ...
Ultrastructural investigation of a case of papular (dermal) lymphoid hyperplasia with eosinophilia revealed in the proliferating tissue rounded inclusion bodies made up of smaller particles which formed within the lysosomal vacuoles and sometimes occupied a large proportion of the cytoplasm. The bodies also occur in the extracellular spaces. Apart from this, groups of mosaic-like particles and concentric bodies with a central core suggesting viral provenance were demonstrated. ...
Heterozygosity for 21-hydroxylase deficiency (21-OHD) was investigated in 174 adult hirsute women by using the sum of the incremental responses of serum 17 alpha-hydroxyprogesterone (17 alpha-OHP) and progesterone (P) (delta 17 alpha-OHP + P), 60 minutes after a 0.25 mg intravenous (IV) bolus of synthetic adrenocorticotropic hormone (ACTH). The distribution of 17 alpha-OHP + P in hirsute women was bimodal, allowing two subgroups to be distinguished. In one subgroup including 137 patients, the mo ...
21-hydroxylase deficiency was described as a fatal disease in infancy manifested by severe adrenal insufficiency with lack of differentiation of the external genitalia in males. Patients are in adrenal insufficiency or receiving long term corticosteroid therapy and are unable to respond normally to surgery or other forms of stress. Therefore, supplementation with corticosteroids and various regimens are required for surgery and anesthetic management. A 3 year 10 months correction of 6] old pheno ...
We assessed the predictive value of anatomical findings and karyotype for establishing a diagnostic orientation in patients with disorders of sex development (DSD). We performed a retrospective chart analysis of 228 patients, grouped into 4 categories: 46,XX DSD, non-dysgenetic testicular DSD, dysgenetic testicular DSD and ovotesticular DSD. Degree of virilisation, presence of vagina, presence of palpable gonads, size of gonads and a plain karyotype was available for all cases. 46,XX DSD due to ...
An experimental canine model was designed to examine the potential use of the artificial urinary sphincter around a gastric tube. The artificial urinary sphincter was placed around a tubularized gastric flap as part of a continent gastric reservoir in 4 dogs and in 2 additional dogs the gastric tube was anastomosed to the native bladder. Two dogs underwent placement of the artificial urinary sphincter around the gastric tube 4 weeks postoperatively and the remainder had the sphincter placed simu ...
Autogenous radial artery grafts have been advocated for those situations in which adequate saphenous vein is not available for aortocoronary bypass procedures. It was anticipated that autogenous artery would demonstrate less predilection to develop the intimal proliferative changes seen with vein grafts in the arterial system. Early clinical experience with 79 patients receiving one or more radial artery grafts has shown that the radial artery is not spared occlusive intimal proliferative change ...
A JAK2 mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders. To address the contribution of this mutant to the pathogenesis of these different myeloproliferative disorders, we used an adoptive transfer of marrow cells transduced with a retrovirus expressing JAK2 in recipient irradiated mice. Hosts were analyzed during 6 months after transplantation. For a period of 3 months, mice developed polycythemia, macrocytosis and usually peripheral blood granulocytosis. Tr ...
  • William Hamilton,
  • Clinica chimica acta; international journal of clinical chemistry
  • 1976
Five cases of congenital adrenal hyperplasia due to C21-hydroxylase defect were treated with a combination of aminoglutethimide and prednisolone. In the third year of treatment the urinary levels of 17-oxosteroids increased above normal values while the total 17-hydroxy-corticosteroids were normally low. Specifically, urinary pregnanetriol was normal in 3 cases. To determine the reasons for this disparity the adrenal metabolism of cholesterol, as judged by the urinary steroid metabolites, was st ...
In an 18-year-old woman non-classic 21-hydroxylase deficiency was diagnosed and dexamethasone treatment was instituted. Ten years later, she became pregnant for the first time; at 37 weeks unexpected intrauterine foetal death was found to have occurred. A second pregnancy ended with a spontaneous abortion following a 12-week period of amenorrhoea. At the third pregnancy, the medication was replaced with hydrocortisone as it was suspected that the use of dexamethasone may have played a role in th ...
BACKGROUND The objective of this study was to compare the analysis of 17-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) in serum with analysis by liquid chromatography tandem mass spectrometry (LC-MS/MS) on dried blood spot samples (DBSS) for monitoring therapy in children with congenital adrenal hyperplasia (CAH), and to investigate differences in 17-OHP values during the day. METHODS Fourteen children (8 females), median age 4.2 (0.3-16.0) years, were studied. Serum samples and DBSS ...
BACKGROUND Monitoring of treatment for patients diagnosed with congenital adrenal hyperplasia (CAH) can be performed by measuring the concentration of 17α-hydroxyprogesterone (17OHP) in bloodspots collected on filter papers. A method is described here for measuring 17OHP by liquid chromatography tandem mass spectrometry (LCMSMS). METHODS 17OHP was extracted by liquid-liquid extraction and analysed by LCMSMS. The method was validated for sensitivity, specificity, linearity, recovery, ion suppr ...
Disorders of sex development are complex disorders with atypical chromosomal, gonadal or anatomical sex. Decision making in relation to sex assignment has been perceived as extremely disturbing and difficult for families and healthcare professionals. This is mainly due to a general paucity of information about the condition, lack of advanced diagnostic settings, and an exaggerated feeling of stigma and shame associated with genital abnormalities. Lack of accurate healthcare information and repor ...
17-α-hydroxylase enzyme has a crucial role in the steroid biosynthesis and, deficiency of this enzyme is an autosomal recessive monogenic disorder which is one of the two hypertensive form of congenital adrenal hyperplasia. It is characterized with the deficiency in glucocorticoid, adrenal androgen, and sex steroid synthesis with concomitant mineralocorticoid excess due to genetic defect in steroid biosynthesis. The relationship of hormone system physiology with psychiatric signs and syndromes ...
Multifocal hyperplasia of interstitial cells of Cajal (ICC hyperplasia) is a precursor of hereditary gastrointestinal stromal tumors (GISTs) in patients with germline mutations of c-KIT or PDGFRA, but precursor lesions of sporadic GISTs have not been defined yet. Small hyalinizing stromal tumors of the proximal stomach (referred to in this study as GIST tumorlets) were collected prospectively from 98 consecutive autopsies and additional cases were retrieved from surgical pathology files (total n ...
BACKGROUND To minimize the inflammatory reaction and improve healing, a new modified dermal substitute composed of an atelocollagen, chondroitin-6-sulfate, and amniotic membrane (AM) was applied to full-thickness skin defects in a pig. Atelocollagen was extracted from bovine skin, and two modified dermal substitutes were generated according to the cross-linking type. METHODS The AM-collagen dermal substitutes were characterized and compared with currently used dermal substitutes in a pig skin ...
OBJECTIVE To investigate the effects of 24 months of tibolone treatment on the endometrium in postmenopausal women. DESIGN An open, prospective, multicenter study with a treatment duration of 24 months. POPULATION One hundred and fifty healthy postmenopausal women. METHODS Women were treated with one tablet of tibolone (2.5 mg Org OD14) daily. Endometrial biopsies were taken at baseline, 12 months (n = 112) and 24 months (n = 62) to investigate endometrial histology by means of light micro ...
BACKGROUND Neonatal screening for steroid 21-hydroxylase (CYP21) deficiency is performed to identify congenital adrenal hyperplasia (CAH). The immunologic assay for 17alpha-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step involving analysis of the CYP21 gene. METHODS Between January 1999 and December 2003, a total of 810,000 newborns were screened. Of these, 7920 had to be retested because ...
This study addresses the contributions of gene conversion and a founder effect to the distribution of the two most frequent severe point mutations of the 21-hydroxylase (21OH) gene causing congenital adrenal hyperplasia: the 655G splicing mutation at intron 2, and Gln318Stop in a Spanish population. Direct and indirect analyses of segregated mutant and normal 21OH genes in 200 Spanish families (classic and nonclassic 21OH deficiency) were performed. Both mechanisms were found to contribute to di ...
Steroid 21-hydroxylase (P450c21) deficiency is the major cause of a common genetic disease, congenital adrenal hyperplasia, with the symptoms of virilization due to steroid imbalance. We have devised a fast diagnostic method to detect common mutations in the c21B gene by a two-step gene amplification procedure coupled to restriction digestion. This procedure does not require isotopes and is suitable for routine use in a hospital setting. In addition, we have developed a procedure for the product ...
OBJECTIVE To review experience of CYP11 beta 1 deficiency (previously known as 11 beta-hydroxylase) at the Royal Children's Hospital, Melbourne, Victoria. METHODOLOGY A retrospective case review was conducted from 1974 to 1995 with five cases identified. RESULTS Age of presentation ranged from 1 day to 7 years. Presentation was with ambiguous genitalia at birth (two females), simple virilization (two males) and suspected early puberty in mid childhood (one female). Associated clinical featur ...
OBJECTIVE In contrast to the high incidence of testicular adrenal rest tumors in adult male patients with congenital adrenal hyperplasia (CAH), ovarian adrenal rest tumors (OARTs) in female CAH patients are rare. In this case report, we describe a case of bilateral OART in a female patient with CAH due to 21-hydroxylase deficiency. METHODS We present a detailed case report with the clinical, imaging, and laboratory findings of the patient. The pertinent literature is also reviewed. RESULTS A ...
Dehydroepiandrosterone sulfate (DHEAS) concentration levels were measured by a specific RIA in 23 female and 7 male patients with classical congenital adrenal hyperplasia (CAH) salt-losing type due to steroid 21-hydroxylase (21-OH) deficiency. The patients were divided into four groups by age and the DHEAS concentrations (mean +/- SD; micrograms/dl) for each age group were: 5 to 8 years (10.2 +/- 6.5; range 5-23 micrograms/dl); 8 to 10 years (18.3 +/- 14.9; range 5-44 micrograms/dl); 10 to 18 ye ...
The aim of the study was to compare the response between the standard and low dose adrenocorticotropin (ACTH) test for patients with congenital adrenal hyperplasia (CAH). The authors employed a 2-by-2 crossover design and enrolled 16 patients, 14 girls and 2 boys, aged between 1.4 months and 15 years. Steroid treatment was stopped 24 hours before each test was conducted. The standard ACTH (250 microg) test was performed followed by the low dose test (1 microg) in eight patients; the other eight ...
Deficiency of 21-hydroxylase constitutes the most frequent form of Congenital adrenal hyperplasia (CAH) and is classified into classical and nonclassical (NC) forms. The type of the molecular defect determines the severity of the phenotype with a high degree of concordance for the classical genotypes but with lower concordance for the NC genotypes. The clinical expression of NC-CAH is quite variable ranging from an asymptomatic state to premature pubarche, hirsutism, acne, menstrual irregulariti ...
OBJECTIVES To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA). METHODS The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene. RESULTS Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on stimulated 17-hydroxyprogesterone (17-OHP) levels and the presence of two mutations in CYP21A2, 19 were heterozygo ...
Peripheral precocious puberty has been described in girls with mild adrenal 3βHSD deficiency. We describe two sisters with CPP and reduced activity of adrenal 3βHSD. Sexual maturity rate was B2P3 in Pt1 and B3P3 in Pt2 at diagnosis.Acne, hirsutism, or cliteromegaly were not present. Laboratory data (60 min. post-i.v 0.25mg ACTH) revealed decreased activity of adrenal 3βHSD as shown below.DHEA-S levels were high. Normal basal and stimulated levels of additional plasma steroids, and normal urin ...
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, including the salt-wasting and the simple virilizing types, and nonclassical forms based on the severity ...
A mother at risk for 21-hydroxylase deficiency was treated with oral dexamethasone (0.5 mg 12 hourly) from early pregnancy, in an attempt to prevent in utero virilization in case of a female fetus. Fetal karyotype was 46,XX, and because of a possible intra HLA recombination, treatment was continued to term. The newborn had a modest virilization and hormonal studies confirmed the diagnosis of congenital adrenal hyperplasia (CAH). This observation and review of the literature suggest that efficien ...
A battery of tests was administered to 17 patients with congenital adrenal hyperplasia (CAH) and 17 normal controls to investigate the effect of prenatal androgen exposure on cerebral lateralization and cognitive performance. Individuals were compared on measures of hand preference, verbal and performance IQ, and temporal processing asymmetry. A higher incidence of left-handedness was found among CAH participants. CAH individuals exhibited higher performance IQs as opposed to verbal IQs. Tempora ...
Serum concentrations of the adrenal androgen, dehydroepiandrosterone sulfate, were measured by radioimmunoassay in normal infants and children, in sick premature and full-term newborn infants, and in patients undergoing evaluation of the hypothalamic-pituitary-gonadal and -adrenal systems. Premature infants had significantly greater (p less than 0.001) levels of DHAS (263 +/- 40)[SE]migrong/dl) than did full-term infants (58.9 +/- 5.2) during the first ten days of life; further increments occurr ...
CONTEXT The mechanisms behind onset of labor and prolongation of pregnancy are not fully understood, but steroid hormones are thought to contribute. 17-Hydroxyprogesterone has been shown to prolong pregnancy in humans. Male fetuses have been reported to have longer gestation than females. OBJECTIVE The objective of the study was to investigate whether severity of 21-hydroxylase gene (CYP21) deficiency in fetuses with congenital adrenal hyperplasia (CAH) correlates with length of pregnancy. D ...
Semantic Scholar extracted view of "Late onset 21-hydroxylase deficiency and HLA in the Ashkenazi population: a new allele at the 21-hydroxylase locus." by Z. V. I. Laron et al. ...
  • I. A. Hughes,
  • Bailliere's clinical endocrinology and metabolism
  • 1998
The congenital adrenal hyperplasias are the commonest cause of ambiguity of the external genitalia at birth, although sexual differentiation in these disorders is strictly normal. The masculinized genetic female is invariably the result of 21-hydroxylase deficiency. The molecular features are well characterized and the phenotypic correlates are generally concordant. Prenatal treatment by maternal dexamethasone administration can successfully prevent virilization of the external genitalia in an a ...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. The other seldom cortisol synthesis abnormalities include deficiencies of: 11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase, 17beta-hydroxylase, 17,20-lase and 11 beta-hydroxysteroid dwehydrogenase type 1. There are three main types, depending on the clinical level of 21-hydroxylase deficiency: (1) classical form--salt-wasting CAH (2) the classical fo ...