Congenital Adrenal Hyperplasia

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Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia

Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia

The psychosocial outcomes of female patients with congenital adrenal hyperplasia (CAH) have not been consistently defined. Outcome information is limited regarding females who have the classical form of CAH, with reports of poor quality of life (QoL), general mal- adjustment, problems regarding sexuality, and decreased fertility [1, 2]. Among some, previous genital surgery was probably less refined than currently and may have resulted in external genitalia that impaired both sexual intercourse and sexual responsiveness. With refinements in medical therapy and surgery and changes in societal perspectives regarding gender and sexuality, QoL factors, including socialization and sexuality, need further assess- ment. Recent studies on QoL and psychosocial adjust- ment suggest less than satisfactory results; women with
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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 original work is properly cited. Congenital adrenal hyperplasia (CAH), most commonly due to 21-hydroxylase deficiency (21OHD), has been studied by pediatric endocrinologists for decades. Advances in the care of these patients have enabled many of these children to reach adulthood. In contrast to the course and management of the disease in childhood, little is known about CAH in adults. In many patients, the proclivity to salt-wasting crises decreases. Linear growth ceases, and reproductive function becomes an issue. Most importantly, management must minimize the potential for long-term consequences of conventional therapies. Here we review the existing literature regarding comorbidities of adults with 21OHD, goals of treatment, and approaches to therapy, with an emphasis on need for improved management strategies.
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Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

The treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is complex. In addition to disease control, important therapeutic goals are the maintenance of normal growth and the acquisition of normal reproductive function. Here, data regarding final adult height (FH) in patients with CAH will be reviewed. Additional difficulties associated with CAH, including risks of obesity and hypertension, will be discussed. Information about fertility and reproductive outcomes in men and women with CAH will also be summarized. Although the treatment of each child with CAH needs to be individualized, close medical followup and laboratory monitoring along with good compliance can often result in positive clinical outcomes.
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Health-related quality of life in children with congenital adrenal hyperplasia

Health-related quality of life in children with congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) due to 21 α - hydroxylase deficiency is a form of adrenal insufficiency characterized by impaired cortisol synthesis and exces- sive adrenal androgen production. Depending on the severity, CAH is classified as either classic (severe phenotype) or non-classic (mild phenotype). The classic phenotype is subdivided into simple-virilizing and salt- wasting based on whether there is an adequate or defi- cient aldosterone production. Treatment for CAH involves life-long glucocorticoid replacement. In growing children, hydrocortisone is the recommended gluco- corticoid at 10-15 mg/m 2 /day [1]. Due to the short half-
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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 characterised as the absence of such a skeleton. Meanings which individuals impose on their experiences may be construed as a product both of that experience, and the collection of socially constructed 'truths' which are part of every member of that society's repertoire of beliefs, actions and expectations. Such 'truths', the ways in which the members of the society verbalise and give meaning to their experiences, have been described as 'discourses'. A discourse is a complex concept described by Prior (1989) as ' not merely a narrow set of linguistic practices which report on the world, but .. composed of a whole assemblage of activities, events, objects, settings and epistemological precepts.' (p.3). More briefly Ransom (1993) described discourses as structured ways of knowing. Discourses therefore operate across many social structures, situations and institutions, and may act as 'filters' or, to use Bem's 1993 terminology, lenses through which meaning is construed from experience. In his analysis of discourses, Foucault (1981) proposed that discourses actually create the experience to which they refer. For example, discourses of femininity both constitute what it means to be a woman and in so doing also influence the constructions of experiences though the beliefs inherent in the discourse. It follows from this model that as social discourses are developed or changed, the meaning of experiences will be re­ construed, and through these changes the view of the self will be re-created.
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Upper-Tract Genitourinary Malformations in Girls With Congenital Adrenal Hyperplasia

Upper-Tract Genitourinary Malformations in Girls With Congenital Adrenal Hyperplasia

RESULTS. Of 107 patients with congenital adrenal hyperplasia, 66 girls were identi- fied. Of these, 14 were found to have upper-tract genitourinary abnormalities. The anomalies consisted of vesicoureteral reflux grades 1 to 3 (9), hydronephrosis (4), and duplicated collecting system (1). Two boys with congenital adrenal hyperpla- sia and known upper-tract genitourinary anomalies were also identified. One had ureteropelvic junction obstruction, and the other had a left malrotated kidney with hydronephrosis. Four patients (1 boy, 3 girls) underwent surgery that consisted of ureteral reimplantation (2) and ureteral stent placement (2). The reflux eventually resolved in 3 patients and worsened in 1. Hydronephrosis improved in 1 patient. None of the patients developed any impairment in renal function.
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Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia

Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia

hyperplasia. In Pakistan, the patient had abdominal hysterectomy, bilateral salpingoophrectomy, and was started on corticosteroid replacement. At 7 years, shortly after immigrating to Canada, height was 138 cm and BMI 19.3 kg/m 2 (+2.9 SDS and +1.7 SDS, respectively, male growth chart) and blood pressure was greater than the 99th percentile for age and height. The patient had Prader stage III - IV genital anatomy. Bone age was significantly advanced, yielding a severely compromised predicted final adult height. Biochemical evaluation was consistent with 11 β -hydroxylase deficiency congenital adrenal hyperplasia.
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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 suggested such as androgen excess, secondary polycystic ovaries syndrome, and psycho-social factors. Adequate glucocorticoid therapy and improvement of surgical and psychosocial management could contribute to optimize fertility. Majority of our female patients have irregular menstrual cycles and polycystic ovary, however, one with simple virilizing CAH, had successfully conceived with a good outcome. However, fertility in males is poorly studies. While in one series showed normal fertility, others reported substantially reduced fertility. (79-81)
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Neonatal Salt Loss in the Hypertensive Form of Congenital Adrenal Hyperplasia

Neonatal Salt Loss in the Hypertensive Form of Congenital Adrenal Hyperplasia

Neonatal Salt Loss in the Hypertensive Form of Congenital Adrenal Hyperplasia. http://pediatrics.aappublications.org/content/65/4/777[r]

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Congenital adrenal hyperplasia with cholestatic jaundice

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 births.1 Five kinds of various enzyme deficiencies are recognized for CAH, we present one of the rarer forms; 11-beta hydroxylase deficiency. With an incidence of 1: 100,000 live births 1 this is due to the mutation of the CYP 11 beta 1 gene on the 8q21-q22. 11-beta hydroxylase mediates the final step in the glucocorticoid pathway and the conversion of 11-deoxycorticosterone (DOC) into corticosterone. Deficiency of the enzyme results in excessive levels of 11-
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Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

Context: Quality of life (QoL) has been variously reported as normal or impaired in adults with congenital adrenal hyperplasia (CAH). To explore the reasons for this discrepancy we investigated the relationship between QoL, glucocorticoid treatment and other health outcomes in CAH adults. Methods: Cross-sectional analysis of 151 adults with 21-hydroxylase deficiency aged 18–69 years in whom QoL (assessed using the Short Form Health Survey), glucocorticoid regimen, anthropometric and metabolic measures were recorded. Relationships were examined between QoL, type of glucocorticoid (hydrocortisone, prednisolone and dexamethasone) and dose of glucocorticoid expressed as prednisolone dose equivalent (PreDEq). QoL was expressed as z-scores calculated from matched controls (14 430 subjects from UK population). Principal components analysis (PCA) was undertaken to identify clusters of associated clinical and biochemical features and the principal component (PC) scores used in regression analysis as predictor of QoL.
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Androstenedione and Its Conversion to Plasma Testosterone in Congenital Adrenal Hyperplasia

Androstenedione and Its Conversion to Plasma Testosterone in Congenital Adrenal Hyperplasia

The plasma concentration, production rate, and conversion ratio of androstenedione and testosterone were studied in seven children with congenital adrenal hyperplasia (CAH) of the 21-hydroxylase type. Plasma androstenedione and testosterone measured by double isotope derivative assay and estimated blood production rates were manyfold increased in the untreated state, markedly suppressed with glucocorticoid, and increased after the administration of ACTH.

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Technical Report: Congenital Adrenal Hyperplasia

Technical Report: Congenital Adrenal Hyperplasia

ABSTRACT. The Section on Endocrinology and the Committee on Genetics of the American Academy of Pediatrics, in collaboration with experts from the fields of pediatric endocrinology and genetics, developed this policy statement as a means of providing up-to-date in- formation for the practicing pediatrician about current practice and controversial issues in 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 nonclassic CAH. The reference list is designed to allow physicians who wish more informa- tion to research the topic more thoroughly.
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Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction

Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction

corticotropin-releasing hormone (CRH), which stimulates pituitary release of adrenocorticotropin hormone (ACTH). Activation of ACTH receptors in the adrenal cortex promotes glucocorticoid synthesis and secretion; glucocorticoids then act on a wide range of target tissues (1). Steroidogenic cells store very little steroid hormone; therefore, a rapid steroidogenic response requires synthesis of new steroid (2, 3, 4). In response to ACTH, cAMP stimulates the secretion of StAR almost immediately and folded by GRP78 (5). Next, it is loaded onto the outer mitochondrial membrane (OMM) for cholesterol transport to inner mitochondrial membrane, which is then catalyzed by the cholesterol side chain cleavage enzyme, CYP11A1 or P450scc (SCC), to form the first steroid in the tissue, pregnenolone. Thus, pregnenolone is the first substrate for all steroids synthesized in the adrenals and ovary/gonads in a very complex pathway involving many genes. Any mutation in the genes involved in the pathway generally leads to diminished production of cortisol and adrenal enlargement and termed congenital adrenal hyperplasia (CAH). As a result, CAH patients usually develop salt-losing crisis with an ambiguous genitalia. In some case, physiological and laboratory data have identified patients with biochemical evidence of CAH with no known mutations in any gene participating in the steroid synthesis pathway (6).
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Normal Intelligence in Female and Male Patients with Congenital Adrenal Hyperplasia

Normal Intelligence in Female and Male Patients with Congenital Adrenal Hyperplasia

We provide evidence regarding the nature, causes, and consequences of intelligence in patients with 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). Intelligence and quality of life (psychological adjustment) were measured on multiple occasions from childhood to young adulthood in 104 patients with CAH (62 females, 42 males) and 88 unaffected relatives (31 females, 57 males). Information on disease severity (CAH type, age at diagnosis, genital virilization for girls) and salt-wasting crises was obtained from medical records. There was no evidence of intellectual deficit in either female or male patients with CAH. Intelligence was not significantly associated with psychological adjustment or disease characteristics. CAH itself does not appear to increase risk for poor intellectual function. In a sample of patients with generally good disease control, intelligence is not related to adjustment problems, disease severity, or salt-wasting crises.
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Congenital Adrenal Hyperplasia: Case Report in Dizygotic Twins

Congenital Adrenal Hyperplasia: Case Report in Dizygotic Twins

A complete blood count and routine urinalysis.. Dizygotic twins with congenital adrenal hyperplasia, C.R. Note enlarged.. clitoris in both infants but patent vaginal opening in CR., comp[r]

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The Medical Home Concept and Congenital Adrenal Hyperplasia: a Comfortable Habitat!

The Medical Home Concept and Congenital Adrenal Hyperplasia: a Comfortable Habitat!

The medical home model encourages identification of the individual’s strengths, his/her educational needs regard- ing the pathophysiology of CAH, and his/her understanding of future health care needs. Other factors considered in this model include the complexity of the medical illness, cognitive abilities, mental health status, family support, and need for surgery. The report of the Congenital Adrenal Hyperplasia Research Education & Support (CARES) Foun- dation meeting on Comprehensive Care for Children with CAH provides the initial roadmap for interdisciplinary care or “medical homes” for children with CAH. The CARES Foundation report represents the work product of parents and physicians to design the ideal comprehensive clinical setting for children with CAH. The guidelines for the patients with CAH developed by The Endocrine Society Taskforce provide more specific medical management recommenda- tions [11]. Thus, the concept of a medical home in the context of a multidisciplinary patient-centered health care facility is hopefully on the road to implementation.
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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, infertility, acne, and premature pubarche lead to an ascertainment bias in favor of identifying affected women. The nature of the symptoms leads to consideration of polycystic ovary syndrome in the differential diagnosis. Although NCAH is a genetic disorder, the use of morning follicular phase 17-OHP concentrations and acute ACTH stimulation tests are essential diagnostic studies due to the complexity of the CYP21A2 locus. Once the diagnosis is confirmed, genetic analysis may be useful. The specific treatment should be individualized and directed towards the individual’s symptoms and current medical needs.
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Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands

Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands

have been requested to report monthly to the DPSU, whether they had diagnosed or suspected congenital adrenal hyperplasia by 21-hydroxylase deficiency in infancy or childhood. A question- naire was sent each month to the pediatrician involved. He or she was asked to provide data concerning age on admission, sex, symptoms at presentation, physical examination, laboratory in- vestigations (including DNA analysis), and age at start of therapy. Registration by the DPSU was performed nationwide to compare the clinical condition of screened CAH patients with CAH patients in the area without screening and to detect false-negative cases of the screening.
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Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints

Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints

Using the electronic databases OVID/Medline and PsycINFO, searches were performed by combining terms used to identify CAH with those likely to capture the broadest possible range of psychological endpoints (See Table 1). In OVID/Medline, the Medical Subject Heading (MeSH) “Adrenal Hyperplasia, Congenital,” which encom- passes “Adrenogenital Syndrome,” was combined with the MeSH terms “Adjustment, Psychological” (capturing the terms behavior, adaptive; coping behavior; adaptation, psychologic; coping skills; psychological adaptation; psy- chological adjustment), “Stress, Psychological” (comprising anguish, emotional stress, life stress, mental suffering, and suffering), and the terms of psychosexual development; gender; gender identity; gender role; sexuality; sexual behav- ior; sexual dysfunction; sexual dysfunction, psychological; self-concept; body image; individual adjustment; quality of life; fertility; conception; personality inventory; career choice; religion; spirituality; psychopathology; mental dis- orders; cognition; interpersonal relations; marriage; social adjustment; social support; as well as results from the combinations of family + psychology, family + attitude, family + adjustment, and family + behavior. In the case of searches performed on the PsycINFO database, the terms “congenital adrenal hyperplasia,” “adrenogenital syndrome,” and “intersex” were paired with the psychosocial terms listed above. These procedures yielded a total of 98 articles.
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