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Congenital Adrenal Hyperplasia

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2. Congenital adrenal hyperplasia

Congenital adrenal hyperplasia Congenital adrenal hyperplasia - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Congenital adrenal hyperplasia Last reviewed: February 2019 Last updated: December 2017 Summary CAH is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or adrenarche. Males with virilisation in childhood and infants of either sex with a salt (...) -wasting crisis in the first 4 weeks of life are likely to be affected with CAH. The diagnosis is confirmed by biochemical findings, such as an unequivocally elevated serum concentration of 17-hydroxyprogesterone. Serum concentrations of delta-androstenedione and progesterone are increased in males and females with 21-hydroxylase-deficient CAH. Serum concentrations of testosterone and adrenal androgen precursors are increased in affected females and prepubertal males. Definition Congenital adrenal

2017 BMJ Best Practice

3. Congenital Adrenal Hyperplasia (Elevated 17-OHP)

Congenital Adrenal Hyperplasia (Elevated 17-OHP) Actions are shown in shaded boxes; results are in the unshaded boxes. Abbreviations/Key 17-OHP = 17-hydroxyprogesterone ‘Lytes = Serum electrolytes ACTH stim = Adrenocorticotropic hormone stimulation test 21-OHD = 21-hydroxylase deficiency Steroid profile = Complete adrenal cortical hormone profile, e.g., by MS/MS Discretionary treatment = Consult pediatric endocrinology to determine if hydrocortisone therapy is necessary Mild elevation Moderate (...) , High K, Low glucose Replacement therapy Newborn Screen Elevated 17-OHP Congenital Adrenal Hyperplasia (Elevated 17-OHP) © American College of Medical Genetics, 2009 (Funded in part through MCHB/HRSA/HHS grant #U22MC03957) Disclaimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical care It should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed

2018 American College of Medical Genetics and Genomics

4. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency Full Text available with Trip Pro

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency We use cookies to enhance your experience on our website. By continuing to use our website, you are agreeing to our use of cookies. You can change your cookie settings at any time. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline | The Journal of Clinical Endocrinology & Metabolism | Oxford Academic Search Account Menu Menu Navbar Search Filter Mobile (...) Microsite Search Term Close search filter search input Article Navigation Close mobile search navigation Article navigation November 2018 Article Contents Article Navigation Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline Phyllis W Speiser Cohen Children’s Medical Center of New York, New York, New York Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York Correspondence: Phyllis W. Speiser, MD, Cohen Children’s

2018 Pediatric Endocrine Society

5. Congenital Adrenal Hyperplasia Presenting as an Adrenal Mass With Increased 18F-FDG Positron Emission Tomography Uptake Full Text available with Trip Pro

Congenital Adrenal Hyperplasia Presenting as an Adrenal Mass With Increased 18F-FDG Positron Emission Tomography Uptake This article describes congenital adrenal hyperplasia presenting as an adrenal mass with increased 18F-FDG positron emission tomography uptake.

2017 Journal of the Endocrine Society

6. Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life Full Text available with Trip Pro

Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life Classic forms of 21-hydroxylase deficiency (21OHD) are usually diagnosed at birth by salt wasting or precocious puberty in male patients. Here we report the case of a 32-year-old male patient who presented with azoospermia and bilateral testicular tumors. He was referred to our endocrine unit after testicular surgery. His gonadotropins were undetectable. Liquid (...) chromatography-tandem mass spectrometry revealed a high serum progesterone level, high 17-hydroxyprogesterone (17OHP) (255 ng/mL), and high levels of 17OHP metabolites, suggesting a classic form of 21OHD. His blood pressure was normal. Molecular analysis showed a homozygous large 21-hydroxylase gene (CYP21A2) conversion. Furthermore, an adrenal CT scan revealed voluminous, heterogeneous bilateral and asymmetric adrenal masses containing calcifications. Our case report illustrates the fact that a classic form

2018 Journal of the Endocrine Society

7. Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate Full Text available with Trip Pro

Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate 29854986 2019 02 26 2468-0249 3 3 2018 May Kidney international reports Kidney Int Rep Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate. 752-754 10.1016/j.ekir.2018.01.004 Sethi Sidharth Kumar SK Kidney Institute, Medanta, The Medicity Hospital, Gurgaon, Haryana, India. Wazir Sanjay S Neonatology, Cloudnine Hospital, Gurgaon, Haryana, India. Bansal Shyam S Kidney

2018 Kidney international reports

8. Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia. (Abstract)

Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia. We describe clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal hyperplasia (CAH) from an Indonesian population, with proven cortisol deficiency but without clinical signs of cortisol deficiency. We evaluated the in vitro glucocorticoid activity of all relevant adrenal steroid precursors occurring (...) transfected with the GR and exposed to increasing amounts of adrenal steroid precursors for 24hours.Blood concentrations of the steroid precursors 11-deoxycortisol (457nmol/L, p=0.003), 11-deoxycorticosterone (55nmol/L, p=0.003), 17-hydroxyprogesterone (610nmol/L , p<0.001), progesterone (29nmol/L, p<0.001), and 21-deoxycortisol (73 nmol/L) were strongly elevated compared to controls. The GR was activated with comparable potency to cortisol by corticosterone and 21-deoxycortisol or with 4-100x lower

2019 Journal of Clinical Endocrinology and Metabolism

9. Testicular adrenal rest tumour in an adult patient with congenital adrenal hyperplasia: a case report and review of literature Full Text available with Trip Pro

Testicular adrenal rest tumour in an adult patient with congenital adrenal hyperplasia: a case report and review of literature Late presentations of testicular adrenal rest tumours (TART) are rarely seen in males with congenital adrenal hyperplasia, and are often misdiagnosed as primary testicular germ cell tumours. We report a case of bilateral TART in an adult patient with congenital adrenal hyperplasia who had defaulted treatment. He presented with a gradually increasing swelling of the left

2018 Journal of surgical case reports

10. LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT)

LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT) LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached (...) the maximum number of saved studies (100). Please remove one or more studies before adding more. LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT) (SPECTROSPOT) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before

2018 Clinical Trials

11. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells Full Text available with Trip Pro

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback regulation of the hypothalamic-pituitary-adrenal axis. Here, we generated human induced steroidogenic cells (hiSCs) from (...) fibroblasts, blood-, and urine-derived cells through forced expression of steroidogenic factor-1 and activation of the PKA and LHRH pathways. hiSCs had ultrastructural features resembling steroid-secreting cells, expressed steroidogenic enzymes, and secreted steroid hormones in response to stimuli. hiSCs were viable when transplanted into the mouse kidney capsule and intra-adrenal. Importantly, the hypocortisolism of hiSCs derived from patients with adrenal insufficiency due to congenital adrenal

2018 Cell reports

12. In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex. Full Text available with Trip Pro

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex. A two-hit hypothesis has been proposed to describe the pathophysiology of lipoid congenital adrenal hyperplasia. In previous studies using conventional steroidogenic acute regulatory protein (Star) gene knockout (KO) mice, adrenocortical lipid accumulation was already prominent at birth. Thus, the two-hit hypothesis was verified in the gonads of Star KO mice but not in the adrenal (...) cortices. We generated time-dependent conditional Star KO mice induced by tamoxifen (TAM) injections and analyzed the adrenal cortices of the mice histologically and endocrinologically before, 24 hours after, and 8 weeks after TAM. We performed RNA sequencing analyses of the adrenal glands before and 8 weeks after TAM and histologically analyzed autologous adrenal cortices of TAM-induced Star KO mice with transplantation of wild-type adrenal gland. Lipid accumulation was scattered 24 hours after TAM

2018 Endocrinology

13. Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia Full Text available with Trip Pro

Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is one of the most prevalent, and potentially severe, genetic inborn errors of steroid synthesis directly affecting metabolism. Most patients are diagnosed and treated at an early age. There have been very limited reports of adults with CAH-associated adrenal myelolipomas. We aimed to analyze two families with CAH-associated giant adrenal myelolipomas caused (...) by defects in CYP21A2 and CYP17A1 genes.A total of 14 individuals from two unrelated families were identified with either CYP21A2 or CYP17A1 mutations. Of note, 5 patients were found with adrenal myelolipomas. Total DNA isolated from the peripheral blood of the two probands was screened for potential mutations in the following susceptibility genes of CAH: CYP21A2, CYP11B1, CYP17A1, HSD17B3, HSD3B2, ARMC5, and STAR using Target Capture-Based Deep Sequencing; and Sanger sequencing was conducted

2018 Endocrine connections

14. A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia Full Text available with Trip Pro

A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (CAH21) is most often diagnosed by newborn screening. The classic parameter studied is 17-hydroxy-progesterone, but the positive predictive value for the diagnosis of CAH is low in full-term newborns and even lower in preterm newborns.To

2017 Journal of the Endocrine Society

15. Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis Full Text available with Trip Pro

Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis Hypercalcemia is reported as a rare finding in adrenal insufficiency, but is not well described in congenital adrenal hyperplasia (CAH).A retrospective chart review was conducted of patients with CAH diagnosed before the age of 2 years who had at least one recorded serum calcium measurement. Data from birth to 6 years of age were reviewed.Of the 40 patients who met inclusion criteria

2017 Journal of the Endocrine Society

16. A Patient (46XX) With Congenital Adrenal Hyperplasia and Prostate Cancer: A Case Report Full Text available with Trip Pro

A Patient (46XX) With Congenital Adrenal Hyperplasia and Prostate Cancer: A Case Report Congenital adrenal hyperplasia (CAH) can affect sex characteristics. The most common cause of CAH is 21-hydroxylase deficiency, and the cornerstone of treatment is glucocorticoid replacement in adrenocorticotropic hormone-suppressive dosages. A 64-year-old patient (46XX) with CAH resulting from 21-hydroxylase deficiency had been treated with dexamethasone and testosterone since diagnosis at age 12

2017 Journal of the Endocrine Society

17. Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery Full Text available with Trip Pro

Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery Management of adult patients with classic congenital adrenal hyperplasia (CAH) is challenging and often complicated by obesity, metabolic syndrome, and adverse cardiovascular risk. Alterations in weight can influence cortisol kinetics. A 19-year-old woman with classic CAH and morbid obesity experienced persistent elevations of androgen levels while receiving oral (...) glucocorticoid therapy. Control of adrenal androgens was improved with continuous subcutaneous hydrocortisone infusion therapy, but obesity-related comorbidities persisted. After undergoing sleeve gastrectomy, the patient experienced dramatic weight loss, with improvement in insulin sensitivity and fatty liver in the postbariatric period. Cortisol clearance studies performed to evaluate changes in hydrocortisone dose requirements showed marked alternations in cortisol pharmacokinetics with decreases

2017 Journal of the Endocrine Society

18. Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea? (Abstract)

Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea? The frequency of gender dysphoria (GD) among 46,XX congenital adrenal hyperplasia (CAH) patients is unknown. These data are needed to put into perspective the debate about the timing of reconstructive surgery and possible male-raising of the most severely virilized children.To analyze the frequency of female to male GD between 46,XX individuals raised as females; to identify subgroups

2019 Journal of Pediatric Surgery

19. Height Velocity defined metabolic Control in Children with Congenital Adrenal Hyperplasia using urinary GC-MS Analysis. (Abstract)

Height Velocity defined metabolic Control in Children with Congenital Adrenal Hyperplasia using urinary GC-MS Analysis. Treatment of children with classic congenital adrenal hyperplasia (CAH) with glucocorticoids is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined. Achievement of a normal growth rate is the most important therapeutic goal.We retrospectively evaluated 123 24-h GC-MS urinary steroid metabolome analyses (...) = -2.20, P = 0.03) on HV z-scores. ROC analysis demonstrated that adrenal androgen excess, defined as HV > 1.5 z, was best determined by a z-score of all urinary androgen metabolites of > 0.512 (accuracy 66.2%, sensitivity 57.1 %, specificity 74.4%, positive prediction values (PPV) 66.7%, negative prediction values (NPV) 65.9%). Tetrahydrocortisol excretion > 1480 µg/ m2 BSA/ d in conjunction with suppressed urinary androgen metabolites < 0.163 z indicated overtreatment, defined as HV < -1.5 z

2019 Journal of Clinical Endocrinology and Metabolism

20. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia. (Abstract)

Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia. Congenital Adrenal Hyperplasia (CAH) was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17α-hydroxyprogesterone (17-OHP) levels in dried blood spots. However, the success of NBS for CAH is hampered by high rates of false positive (FP) rates, especially in preterm and low birth-weight infants.To establish a set of cutoff values

2019 Journal of Clinical Endocrinology and Metabolism

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