Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency. An overview of the other types of CAH is presented in the main article. The condition can be classified into "salt-wasting", "simple virilizing", and "non-classical" forms. The salt-wasting and simple virilizing types are sometimes grouped together as "classical". The CYP21A2 gene for the P450c21 enzyme (also known as 21-hydroxylase) is at 6p21.3, amid genes HLA B and HLA DR coding for the major human histocompatibility loci (HLA). CYP21A2 is paired with a nonfunctional pseudogene CYP21A1P. Scores of abnormal alleles of CYP21A2 have been documented, most arising from recombinations of homologous regions of CYP21A2 and CYP21A1P. Differences in residual enzyme activity of the various alleles account for the various degrees of severity of the disease. Inheritance of ...
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex. Mineralocorticoid manifestations of severe 11β-hydroxylase deficient CAH can be biphasic, changing from deficiency (salt-wasting) in early infancy to excess (hypertension) in childhood and adult life. Salt-wasting in early infancy does not occur in most cases of 11β-OH CAH but can occur because of impaired production of aldosterone aggravated by inefficiency of salt conservation in early infancy. When it occurs it resembles the salt-wasting of severe ...
This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with congenital adrenal hyperplasia.. The study will take 60 children, boys and girls and divide them into 2 groups based on the medications given. Group one will receive the new four- drug combination. Group two will receive the standard treatment for congenital adrenal hyperplasia (hydrocortisone and fludrocortisone).. The boys in group one will take the medication until the age of 14 at which time they will stop taking the four drug combination and begin receiving the standard treatment for congenital adrenal hyperplasia. Girls in group one will take the four drug combination until the age of 13, at which time they will stop and begin receiving the standard treatment for congenital adrenal hyperplasia plus flutamide. Flutamide will be given to the girls until six months after their first menstrual period.. All of the ...
Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 90 percent of cases of congenital adrenal hyperplasia (CAH). This conversion is mediated by 21-hydroxylase, the enzyme encoded by theCYP21A2gene.Patients with c
TY - JOUR. T1 - DOT‐17α‐HYDROXYPROGESTERONE RADIOIMMUNOASSAY FOR IDENTIFICATION OF CONGENITAL ADRENAL HYPERPLASIA IN YOUNG INFANTS. AU - SÓLYOM, J.. AU - HERVEI, SAROLTA. AU - MAROSSY, P.. AU - SóLYOM, ENIKö. AU - BABOSA, MÁRIA. AU - SZOMBATHY, G.. PY - 1981/12. Y1 - 1981/12. N2 - Abstract. Sólyom, J., Hervci, S., Marossy, P., Sólyom, E., Babosa, M. and Szombathy, G. (2nd Dept. of Paediatrics, Semmelweis Med. Univ., Budapest, Childrens Hosp., Miskolc, "Heim Pál" Childrens Hosp., Budapest, County Hosp., Paediatric Dept., Nyiregyháza; Hungary). Dot‐17α‐hydroxyprogesterone radioimmunoassay for identification of congenital adrenal hyperplasia in young infants. Acta Paediatr Scand, 70: 913, 1981.‐Using a simplified radioimmunoassay method for the determination of 17‐hydroxyprogesterone (17‐OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal ...
We offer to book Congenital Adrenal Hyperplasia (CAH) Test online for Newborn Screening. View Congenital Adrenal Hyperplasia (CAH) Test cost, pre test information and report availability on trutestlab.com. Home collection of blood sample is also available at our centers.
TY - JOUR. T1 - Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their childhood and adolescence. AU - Meyer-Bahlburg, Heino F.L.. AU - Khuri, Jananne. AU - Reyes-Portillo, Jazmin. AU - New, Maria I.. PY - 2017/1/1. Y1 - 2017/1/1. N2 - Objectives To perform a qualitative study of stigma experienced in medical settings by children and adolescents with congenital genital ambiguity (CGA). Methods 62 women with classical congenital adrenal hyperplasia (CAH) of variable severity took part in a qualitative retrospective interview that focused on the impact of CAH and its medical treatment, with an emphasis on childhood and adolescence. Categorization of stigmatization was based on deductive content analysis of the interview transcripts. Results Many women recalled experiencing the genital examinations in childhood and adolescence as adverse, stigmatizing events, leading to avoidance reactions and self-perception as abnormal, particularly ...
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency ...
Evaluation of Blood Pressure and Left Ventricular Parameters in Children with Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Egyptian Experience Abstract.
3. Androgens, which are responsible for the development of secondary sexual characteristics (adrenarche) in both males and females.. All three of these adrenal hormones are necessary for normal body functioning in both males and females. In patients with Congenital Adrenal Hyperplasia, the adrenal glands typically produce too little cortisol and aldosterone, while producing too much of the androgen hormones. Excess levels of androgens can cause atypical genitalia, growth abnormalities, early puberty, and problems with fertility. All infants born in the United States are screened for Congenital Adrenal Hyperplasia shortly after birth. If your child is diagnosed with Congenital Adrenal Hyperplasia, additional tests including blood tests and imaging tests, such as X-rays or ultrasounds, are often done. Ultimately, genetic testing is used to confirm the diagnosis.. CAH is a condition that requires long-term follow-up and monitoring. The treatment involves life-long cortisol with or without ...
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Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulthood in a Tunisian cohort.. Subjects and Methods: We underwent a prospective study of 26 patients over 16 years of old with CAH.. Results: The cases included 26 patients (M: 11, F: 15) with CAH due to 21-hydroxylase deficiency with a mean age of 27.4 years (16.5-48 years). Eighteen patients had the classical CAH form and the remaining 8 patients had the non-classical form. The mean body mass index was 26,9 ± 4,27 kg/m2 (20,3-34,8 kg/m2). The most commonly used drug was hydrocortisone which was used by 21 cases. Five cases had been managed ...
There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. This retrospective study evaluated laboratory practices, along with biochemical and medical characteristics of congenital adrenal hyperplasia (CAH) cases (1) detected on the first newborn screen in one-screen compared to two-screen states, and (2) detected on the first versus the second screen in the two-screen states, to determine the effectiveness of a second screen. A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. Demographic data and diagnostic information on each reported case were collected and analyzed. Additionally, laboratory data, including screening methodologies and algorithms, were evaluated. The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 ...
Congenital Adrenal Hyperplasia in males (CAH), symptoms, causes and treatment of Congenital Adrenal Hyperplasia, parents should always get themselves treated in all manner of conditions before going ahead to bear children.
Classic congenital adrenal hyperplasia affects approximately 1 in 15,000 children. Current treatment strategies using multiple daily doses of hydrocortisone lead to suboptimal outcomes. We tested the hypothesis that nocturnal administration of dexamethasone will suppress the hypothalamic-pituitary-adrenal axis more effectively than standard hydrocortisone treatment by blocking the inherent diurnal secretion of ACTH. We performed a pilot study of five prepubertal patients comparing CAH control during two 24-hour hospitalizations, one on hydrocortisone and the other on dexamethasone. The patterns of adrenal suppression differed markedly between hydrocortisone and nocturnal dexamethasone, with significant suppression of the morning rise in ACTH, 17-hydroxyprogesterone, and androstenedione while on dexamethasone. On hydrocortisone therapy, there is a marked variation in ACTH and adrenal hormones depending on time of day and timing of hydrocortisone administration. Longer-term studies are needed to
CAH21 : Preferred screening test for congenital adrenal hyperplasia (CAH) that is caused by 21-hydroxylase deficiency   Part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH
Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may have an adverse effect on the cardiovascular risk profile in adult CAH patients. The objective of this study was to evaluate the cardiovascular risk profile of adult CAH patients.. DESIGN: Case control study Primary objective : detection of cardiovascular damage in patients with classical or non classical CAH diagnosed in childhood. The patients will be compared with age- and gender- and tobacco status- matched control.. Secondary objective Study of microvascular function Evaluation of cardiovascular risk factors Total cumulative (TCG) and total average (TAG) glucocorticoid doses will be calculated from pediatric and adult files and correlated to arterial macro- and microcirculatory dysfunction.. Primary outcome Ultrasound evaluation of intima-media thickness at ...
there may be clinical and laboratory finding. The aim was to evaluate the epidemiology and clinical finding of CAH. The clinical and laboratory characteristics of 68 patients with CAH who were managed in the pediatric Endocrinology unit of Imam Reza Hospital during 7 years were recorded in this study; the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated in 68 patients admitted Imam Reza Hospital in Mashed, also one patient has been followed in endocrine and metabolism pediatric clinic in this time, during 6 years retrospectively and I year prospectively. Parental consanguinity rate among families of patients was higher than the general population in Mashad [73.8% vs 30%]. In 44.6% of patients the history of disease were positive in sibling.52.2% of patients were males and 47.8% females.21- Hydroxylase deficiency was present in 60 patients [88.2%], salt - losing form in 40 [66.7%] and simple virilizing form in 20 [33.3%] of them.11- beta hydroxylase ...
To determine the glucocorticoid receptor (GC-R) status in congenital adrenal hyperplasia (CAH) we examined 11 patients (5 female, 6 male) with 21-hydroxylase deficiency and 3 patients (2 female, 1 male) with 11 beta -hydroxylase deficiency, The mean age at investigation was 8.9+/-3.5 yr, Age of diagnosis was 4.4+/-3.2 yr and all patients were being treated with hydrocortisone, The control group included 10 (5 female, 5 male) age-matched healthy children. Blood samples were drawn at 0800 a.m. after an overnight fast in all subjects and after 5 days off treatment in patients with CAH. Serum cortisol tin all children), and serum 17-hydroxyprogesterone and androstenedione tin the patient group) were measured by radioimmunoassay, Mononuclear leukocytes were isolated from peripheral blood and the binding of [H-3]dexamethasone to GC-R was examined. GC-R number and the dissociation constant (Kd), which is inversely proportional to its binding affinity, were determined, Mean GC-R numbers were 5814+/-1574 ...
The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functional CYP21P gene. Using the amplification created restriction site (ACRS) approach for direct mutational detection, a secondary PCR was then performed using a panel of primers specific for each of the 11 known mutations associated with CAH. Subsequent restriction analysis allowed not only the detection but also the determination of the zygosity of the mutations analysed. Existing deletion of the CYP21 gene could also be detected. In the analysis of 20 independent chromosomes in 11 families of CAH patients in Taiwan, four CYP21 mutation types, besides deletion, were detected. Interestingly, in five different alleles, the CYP21P pseudogene contained some polymorphisms generally associated with the CYP21 ...
The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis ...
Поздние осложнения классической формы врожденной дисфункции коры надпочечников и ее неадекватного лечения у мужчин (клинический случай с обзором литературы)
Congenital adrenal hyperplasia (CAH) is caused by the genetic impairment of one of the five enzymes required for the biosynthesis of cortisol from cholesterol. In 95% of cases 21-hydroxylase deficiency (21-OHD) is responsible for the disease (1). Classic 21-OHD has an incidence varying from 1:11 800 to 1:21 800, depending on the population background. The pathophysiology, clinical picture, genetics, and the unique aspects of management from the point of view of the paediatric endocrinologist are addressed, and the problems encountered from birth to puberty are described. The child specific issues of rare forms of CAH are summarized thereafter. The reader is referred to Chapter 5.11 for a comprehensive overview of 21-OHD and for more details on all other forms of CAH.. ...
Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18.1 nmol/L (0-1.5 nmol) and 17-Hydroxyprogesterone ,180 nmol/L (,6.5 nmol/L). CT abdomen was performed as the patient complained of rapid-onset increasing abdominal girth and revealed bilateral large adrenal myelolipomata. MRI brain revealed a large meningioma involving the right sphenoid wing with anterior displacement of the right eye and associated bony destruction. Surgical debulking of the meningioma was performed and histology demonstrated a meningioma, which stained ...
Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have included CAH among the diseases surveyed. In the State of Parana, Brazil, NS for CAH started in 2013.. Objectives: To determine the prevalence of CAH in Parana; to characterize interfering factors related to false positive results for CAH; and to determine sensitivity, specificity, accuracy, positive and negative predictive values and false positive rate of the 17-OHP dosing method.. Patients and methods: Clinical and laboratorial evaluation of NB tested positive for CAH in the period of August/2013-July/2016; 17-OHP in ...
Congenital adrenal hyperplasia (CAH), also known as the "adrenogenital syndrome," is an uncommon condition caused by a congenital defect in one of several enzymes that take part in the chain of reactions whereby cortisol is manufactured from its precursors. There are at least six fairly well-defined variants of CAH that result from the various enzyme defects. The most common of these are types I and II, which are due to C21-hydroxylase enzyme deficiency. All CAH variants are inherited as autosomal recessive traits. The clinical and laboratory findings depend on which metabolic pathway-and which precursor in the metabolic pathway- is affected. All variants affect the glucocorticoid (cortisol) pathway in some manner. In CAH due to 21-hydroxylase defect (types I and II) and in CAH type III, although formation of cortisone and cortisol is blocked, the precursors of these glucocorticoids are still being manufactured. Most of the early precursors of cortisone are estrogenic compounds, which also are ...
Congenital hyperplasia of the adrenal glands is a rare pathology, which can have an impact on male fertility. We report 2 cases of azoospermia in patients followed for a classical form of congenital adrenal hyperplasia. 1st case: After 18 months of infertility of the couple, explorations showed a high level of ACTH on the hormonal biological analysis. A therapeutic strategy combining hydrocortisone with dexamethasone induced a normal semen analysis, and the female partner of the patient subsequently had three spontaneous pregnancies. 2nd case: After two years of infertility of the couple, explorations showed adrenal testicular inclusions invading the 4/5th of the testis with a hypergonadotropic hypogonadism, the therapeutic reinforcement did not allow the improvement of semen analysis. Sertolian deficiency can be explained by: gonadotropic deficiency by excess of adrenal androgens and adrenal testicular lesions (risk of major spermatic alteration). Congenital hyperplasia of the adrenal glands is a rare
Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18.1 nmol/L (0-1.5 nmol) and 17-Hydroxyprogesterone ,180 nmol/L (,6.5 nmol/L). CT abdomen was performed as the patient complained of rapid-onset increasing abdominal girth and revealed bilateral large adrenal myelolipomata. MRI brain revealed a large meningioma involving the right sphenoid wing with anterior displacement of the right eye and associated bony destruction. Surgical debulking of the meningioma was performed and histology demonstrated a meningioma, which stained ...
Congenital adrenal hyperplasia (CAH) is a problem that affects how the adrenal glands work. The adrenal glands need an enzyme to make certain hormones. Children with CAH are missing or have low levels of this enzyme.. The hormones produced by the adrenal glands affect nearly every organ in the body. They help the body cope with stress, hold salt and water, and maintain blood pressure. They also affect sexual development.. CAH is a problem that is passed through genes. Most of the time its found during routine newborn blood tests.. When a child has CAH, he or she will need to take medicine each day to replace the missing hormones.. You may have just learned that your baby has CAH. You will get more information and support from the hospital staff. ...
Results: Predominant findings in females were incomplete pubertal development (four of five) and large ovarian cysts (five of five) prone to spontaneous rupture, in some only resolving after combined treatment with estrogen/progestin, GnRH superagonists, and glucocorticoids. Pubertal development in the two boys was more mildly affected, with some spontaneous progression. Urinary steroid profiling revealed combined CYP17A1 and CYP21A2 deficiencies indicative of ORD in all patients; all but one failed to mount an appropriate cortisol response to ACTH stimulation indicative of adrenal insufficiency. Diagnosis of ORD was confirmed by direct sequencing, demonstrating disease-causing POR mutations ...
Doctors at Hassenfeld Childrens Hospital at NYU Langone diagnose classic and nonclassic types of congenital adrenal hyperplasia in children. Read more.
Molecular Identification of Intron 2 Splice Mutation and 8bp Deletion in CYP21 Gene for Congenital Adrenal Hyperplasia (CAH) Patients in Kashmir (North India) Abstract.
Learn about Congenital Adrenal Hyperplasia (CAH) symptoms and causes from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated eruption of his permanent teeth related to bone resorption. A 4.5-year-old Caucasian boy with CAH and long-term administration of glucocorticoids was referred for dental restoration. Clinical examination revealed primary molars with worn stainless steel crowns, severe attrition of the upper canines, and absence of the upper incisors. Before the completion of treatment, abnormal mobility of the first upper primary molars and the lower incisors was detected, and a few days later the teeth exfoliated prematurely. Histologic examination revealed normal tooth structure. Alkaline phosphatase and blood cells values were normal. Eruption of the permanent dentition was also accelerated. Tooth mobility was noticed in the permanent teeth as soon as they erupted,
Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and...
Congenital Adrenal Hyperplasia causes a cortisol deficiency in infants, children and adolescents and can be treated by Pediatric Endocrine Associates
The details of bibliography - Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period
TY - JOUR. T1 - Congenital adrenal hyperplasia. AU - White, P. C.. AU - New, M. I.. AU - Dupont, B.. PY - 1987. Y1 - 1987. UR - http://www.scopus.com/inward/record.url?scp=0023226909&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0023226909&partnerID=8YFLogxK. M3 - Article. C2 - 3295546. AN - SCOPUS:0023226909. VL - 316. SP - 1580. EP - 1586. JO - New England Journal of Medicine. JF - New England Journal of Medicine. SN - 0028-4793. IS - 25. ER - ...
An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.
An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.
Another name for Adrenal Hyperplasia is Congenital Adrenal Hyperplasia. Treatment for congenital adrenal hyperplasia usually includes hormone therapy ...
Synonyms: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, Adrenal hyperplasia IV, Adrenal hyperplasia 4, Steroid 11-beta-hydroxylase deficiency, Adrenal hyperplasia hypertensive form, P450c11b1 deficiency, CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency ...
In infants with failure to thrive, salt wasting and (most obviously in baby girls with clitoromegaly, fused labia, and a persistent urogenital sinus) congenital adrenal hyperplasia must be ruled out. The same is true in boys who present with pseudoprecocious puberty and in older girls with signs and symptoms of hyperandrogenism, although, in teenage girls, polycystic ovary is the most common cause.. Congenital adrenal hyperplasia can be reliably diagnosed with a dexamethasone suppression test. Apart from a few rare causes of hyperandrogenism including exaggerated adrenarche secondary to adrenal hyperresponsiveness to ACTH, hyperprolactinemia, and acromegaly, congenital adrenal hyperplasia is the only virilizing condition in which androgen secretion is suppressed by dexamethasone. ACTH levels can be used to confirm the diagnosis if it is still questionable. An increase in plasma 17-OHP to more than 1200 ng/dL at 60 minutes in response to an IV injection of 250 mcg of cosyntropin is diagnostic of ...
Classic congenital adrenal hyperplasia (CAH) involves a salt-wasting syndrome, most commonly due to 21-hydroxylase deficiency. Since 21 hydroxylase is not available to convert 17-hydroxyprogesterone to 11-deoxycortisol, there is a decreased synthesis of cortisol and therefore an increased secretion of corticotropin (ACTH). Decreased cortisol results in salt wasting while increased ACTH results in increased androgen synthesis. Both baby boys and girls experience salt wasting, but baby girls present virilized or with ambiguous genitalia. This is often diagnosed in the newborn nursery. Baby boys, however, appear normal, and may present in the first few weeks of life (typically) on the spectrum from vague symptoms of failure to thrive to an adrenal crisis ...
TY - JOUR. T1 - Adult Height and Fertility in Men with Congenital Virilizing Adrenal Hyperplasia. AU - Urban, Maria D.. AU - Lee, Peter. AU - Migeon, Claude J.. PY - 1978/12/21. Y1 - 1978/12/21. N2 - The effects of congenital adrenal hyperplasia on adult height and fertility were studied in 30 afflicted men. The patients heights ranged from 150.0 to 178.6 cm (mean ±1 S.D. of 164.0±7.6), which is significantly lower than both the mean adult height for American men and that of the patients parents (P,0.005). There was no correlation between adult height and the age at which therapy was begun, possibly because the patients treated before one year of age had the salt-losing form of the syndrome. Therapeutic compliance may also have been involved. Apparently normal fertility, indicated by paternity and normal sperm counts, was found in 18 out of 20 patients evaluated. This group included five untreated patients who were found to be fertile and to have normal plasma testosterone and gonadotropin ...
Results 131 children were notified in the first 24 months of surveillance, of whom 51 (40%) were diagnosed between 1-15 years of age with CAH of the following subtypes: 21-hydroxylase deficiency (n=36), 11 β-hydroxylase deficiency (n=6), 9 children not yet determined. 14/51 (28%) were Asian compared with 4% of the UK child population and 29/51 (57%; 95% CI 43 to 69%) were girls. Median age at presentation was 6 years (IQR 5-9). In the majority, first presentation was with precocious puberty (36/51; 71%). Two children presented with adrenal insufficiency but a further six went on to have episodes of adrenal insufficiency. 37/51 (73%) had advanced bone age and/or accelerated growth at presentation. One girl, presenting with virilisation, had undergone genital surgery at the time of notification. ...
Congenital adrenal hyperplasia (CAH) is a genetic disorder arising from defective steroidogenesis resulting in glucocorticoid deficiency; the commonest mutation is in the gene encoding 21-hydroxylase. Lifesaving glucocorticoid treatment was introduced in the 1950s and there is now an enlarging cohort of adult patients; however, there is no consensus on management. To address this issue, the Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) was formed in 2003 to study the health status of CAH patients in adulthood. Seventeen specialist Endocrinology centres around the United Kingdom recruited a cohort of 203 adult patients and gathered information on medical treatment, fertility, genetic analysis and quality of life (QoL). The CaHASE study found that adult patients are prescribed a variety of glucocorticoids including hydrocortisone, prednisone, prednisolone, dexamethasone, and combinations taken in either a circadian or reverse circadian regimen. Despite this variety in personalized ...
... - Medical Progress from The New England Journal of Medicine - Congenital Adrenal Hyperplasia. review article. The new england journal of medicine n engl j
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