scholarly journals Increased Frequency of Acute Illness and Hospitalizations in Infants and Toddlers with Congenital Adrenal Hyperplasia

2019 ◽  
Author(s):  
Teresa Tseng ◽  
Amy Seagroves ◽  
Christina M. Koppin ◽  
Madison Keenan ◽  
Elana Putterman ◽  
...  
Keyword(s):  
High Risk ◽  
Congenital Adrenal Hyperplasia ◽  
Acute Illness ◽  
Adrenal Crisis ◽  
Infants And Toddlers ◽  
Adrenal Hyperplasia ◽  
Tertiary Center ◽  
Ed Visits ◽  
The Impact ◽  
Stress Dose

AbstractPurposeInfants and toddlers with classical congenital adrenal hyperplasia (CAH) are at high risk for adrenal crisis and associated sequelae. To better understand acute illness at this early age, we determined the frequency and severity of acute illness and hospitalizations between 0-4 years of age, both within CAH and compared to controls. We also evaluated the impact of pre-hospital stress-dose hydrocortisone on Emergency Department (ED) visits and hospitalizations.MethodsWe performed a retrospective study of 40 CAH youth and 27 age-matched controls at a tertiary center. Characteristics of acute illnesses during the first 4 years of life were recorded, including fever, vomiting, diarrhea, ED visits, hospitalizations, abnormal electrolytes, and stress-dose hydrocortisone usage.ResultsCAH youth had more frequent illnesses requiring stress-dosing when they were younger than 2 years old [4.0 (1.0-6.0)] compared to when they were 2-4 years old [3.0 (1.0-4.0), P < 0.05], with the most illnesses during their first year of life. As well, CAH infants and toddlers had more hospitalizations younger than 2 years old compared to 2-4 years old (36 vs 2). 25% (3/12) of CAH youth with abnormal electrolytes in the ED did not receive any stress-dosing (oral/IM) prior to the ED, and only 25% (3/12) had received intramuscular hydrocortisone at home. CAH youth had more frequent ED visits (7.4 times as many) and hospitalizations (38 to 0) compared to controls.ConclusionsVery young children with classical CAH are at high risk for acute illness and hospitalizations during their first 2 years of life, and do not receive adequate stress-dosing prior to the ED despite appropriate education. Our findings underscore the need for earlier recognition of acute illness in this vulnerable population and improved education regarding administration of stress-dose hydrocortisone to prevent morbidity.

scholarly journals Graves’ Thyrotoxicosis Leading to Adrenal Decompensation and Hyperandrogenemia in a Pediatric Patient with Salt-Wasting Congenital Adrenal Hyperplasia

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Meghan E. Fredette ◽  
Lisa Swartz Topor
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Free T4 ◽  
Adrenal Androgens ◽  
Case Presentation ◽  
Adrenal Hormones ◽  
Salt Wasting ◽  
Glucocorticoid Deficiency ◽  
Stress Dose

Introduction. Thyroid hormone is known to accelerate glucocorticoid turnover. In a thyrotoxic state, individuals with adrenal insufficiency are unable to increase endogenous cortisol production to compensate for increased turnover, placing them at risk for symptoms of glucocorticoid deficiency and adrenal crisis. In patients with salt-wasting congenital adrenal hyperplasia (SW-CAH), hyperandrogenemia is a measurable reflection of relative glucocorticoid insufficiency. Case Presentation. A 12-year-old girl with SW-CAH reported 3 recent episodes of vomiting without diarrhea, and accompanying tachycardia, responsive to stress dose steroids. In the previous 9 months, she unintentionally lost 2.6 kg. She had tachycardia and new thyromegaly. Labs showed suppressed TSH, elevated free T4 and total T3, and elevated thyroid stimulating immunoglobulin (TSI) consistent with Graves’ disease. Adrenal androgens were markedly elevated. Maintenance hydrocortisone dose was 25 mg/m2/day and was not changed. Methimazole was initiated. Four weeks later, free T4 and adrenal androgens normalized. She had no further vomiting episodes. Conclusions. Thyrotoxicosis must be included in the differential diagnosis of individuals with SW-CAH who present with episodes concerning for adrenal crises, escalating hydrocortisone requirements, and/or inadequate suppression of adrenal hormones.

scholarly journals The Burden of Illness of Congenital Adrenal Hyperplasia (CAH) in Adults: Results: of a Structured Literature Review

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A96-A97
Author(s):  
Matthew Stephen Woods ◽  
Helen Coope ◽  
Kamran Maskin ◽  
Lotta Elisabet Parviainen ◽  
John Porter ◽  
...  
Keyword(s):  
Literature Review ◽  
Congenital Adrenal Hyperplasia ◽  
Economic Burden ◽  
Burden Of Illness ◽  
Treatment Options ◽  
Adult Patients ◽  
Cochrane Library ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
The Impact

Abstract Objectives: Congenital adrenal hyperplasia (CAH) is a group of rare autosomal-recessive disorders that arise from genetic deficiencies in key enzymes involved in cortisol synthesis. The burden of CAH has never been comprehensively reviewed; this literature review was conducted to summarise the existing burden of illness evidence available for these patients. Methods: A structured, comprehensive literature review was conducted to identify articles describing the burden and treatment landscape of CAH. Literature databases (MEDLINE, Embase, the Cochrane Library and EconLit), websites and conference proceedings were searched. Searches were performed in 2016 and updated in June 2020; eligible articles presented evidence for patients with CAH or paediatric patients with adrenal insufficiency (AI), for ≥1 topic of interest (epidemiology; natural history; clinical characteristics; humanistic, caregiver and economic burden; treatment options; or clinical guidelines). The evidence presented here focusses on the humanistic and economic burden of CAH in adults. Results: A total of 3,711 citations were identified and 336 were included; 84 references reported humanistic or economic burden data relevant to adult patients with CAH. 51 publications were identified reporting patient symptoms, comorbidities and cardiometabolic risk factors; 38 reporting on the impact of CAH on health-related quality of life (HRQL); 5 reporting patient views and 2 reporting economic burden associated with CAH. Compared to the general population, adult patients with CAH were found to be significantly shorter, have poorer bone health, increased levels of obesity, impaired male and female fertility, higher blood pressure and cholesterol levels, have more psychiatric and neurological disorders and have poorer cognitive performance. Adult patients with CAH were also found to have greater insulin resistance and higher levels of type 2 diabetes (T2D). CAH patients are also at risk of adrenal crisis, which contributes to excess mortality. The reported HRQL in adults with CAH varies, with increased impairment observed in more severe forms of CAH, and challenges due to living with a chronic disease impacting HRQL varying according to sex. “Sick day rules” where patients need to double or triple treatment doses, have a significant impact on patients’ HRQL and also have an impact on patients’ resource use, with a UK study reporting that CAH patients will implement these rules 171 times over their lifetime, and be hospitalised for adrenal crises on 11 occasions. CAH was also found to have a significant economic impact, with significantly higher annual healthcare costs compared to matched controls (p=0.007 for patients aged 18–40 years; p&lt;0.001 for patients aged ≥40 years). Conclusions: This comprehensive review highlights that CAH in adults is associated with a significant humanistic and economic burden.

scholarly journals MON-158 Rates of Illnesses in Patients with Congenital Adrenal Hyperplasia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ashwini Mallappa ◽  
Ninet Sinaii ◽  
Diala El-Maouche ◽  
Padmasree Veeraraghavan ◽  
Elizabeth Joyal ◽  
...  
Keyword(s):  
At Risk ◽  
Congenital Adrenal Hyperplasia ◽  
Incidence Rate ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Life Threatening ◽  
Tract Infections ◽  
21 Hydroxylase Deficiency ◽  
Stress Dose

Abstract Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of primary adrenal insufficiency during childhood and patients are at risk for life-threatening adrenal crisis. In a recent study from our group, we reported gastrointestinal and upper respiratory tract infections as the two most common precipitating events for adrenal crises and hospitalizations across all ages. We also reported 11 incidents of life-threatening hypoglycemic events in children, sometimes accompanied by seizures. Objective: To evaluate the annual rates of illnesses in patients with CAH. Methods: We retrospectively reviewed longitudinally collected data over 23 years from 156 CAH patients enrolled in our CAH natural history study (www.clinicaltrials.gov #NCT00250159). Incidence of illnesses and occurrence of stress-dose days were computed per person-years. Incidence rate ratio (IRR) with 95% confidence intervals (CI) were calculated for comparisons. Results: A total of 2298 visits (1909 for children and 389 for adults) were available for evaluation among the 156 patients (21-OHD: 97.4%). A total of 1870 illness events (1664 in children) were observed in 143 patients (121 children) and 2710 stress-dose days (2460 in children) were observed in 141 patients (120 children) during the study period. The incidence rate of illnesses was higher in children than adults (1.5 vs. 0.5 illnesses/person-years, IRR = 3.1, 95% CI 2.7 - 3.6; P&lt;.0001) with incidence highest in young patients: 2.5 illnesses/person-years in &lt;3 year olds. Similarly, the stress-dose days were higher in children than adults (2.2 vs. 0.6 days/person-years, IRR = 3.8, 95% CI 3.3 - 4.3; P&lt;.0001). Conclusions: Patients with CAH do not appear to have higher rates of infectious illnesses than expected, but remain at risk for life-threatening adrenal crises. As expected, illness rates are higher during childhood than adulthood. Prevention of adrenal crisis is crucial and is best accomplished through repeated age-specific education of patients and caregivers. Acknowledgement: This research was supported by the Intramural Research Program at the National Institutes of Health (NIH), Bethesda, Maryland.

Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Usha Niranjan ◽  
Anuja Natarajan
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Online Survey ◽  
Current Practice ◽  
Normal Growth ◽  
British Society ◽  
Adrenal Crisis ◽  
Optimal Management ◽  
Adrenal Hyperplasia ◽  
Endocrine Society ◽  
The Uk

AbstractCongenital adrenal hyperplasia (CAH) in children varies in presentation and progression with several challenges in optimal management. Effective treatment is to achieve normal growth and development while avoiding adrenal crisis and hyperandrogenisation.Our aim was to ascertain the current practice in the UK on CAH management in children in comparison with the recommendations made by the Endocrine Society.An online survey was emailed to the British Society of Paediatric Endocrinology (BSPED) members requesting a response from each centre regarding CAH management.The survey was completed by 35 out of 92 centres (38% response rate). Tertiary centres constituted 22/35, while 8/35 were district general hospitals providing tertiary services. Treatment varied among centres with 25/35 using 10–15 mg/mOur survey highlights the diversity in managing children with CAH in the UK as compared with the recommendations of the Endocrine Society. It also demonstrates inconsistent involvement of essential specialist services, which are essential for optimal management of this condition.

scholarly journals Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2018-226826 ◽  
Author(s):  
Sakolwan Suchartlikitwong ◽  
Rahul Jasti ◽  
Joaquin Lado-Abeal ◽  
Ana Marcella Rivas Mejia
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Reproductive Organs ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Abdominal Ct ◽  
Acute Adrenal Insufficiency ◽  
Rare Tumours ◽  
21 Hydroxylase Deficiency ◽  
Stress Dose

Adrenal myelolipomas are relatively rare tumours composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone stimulation. We present the case of bilateral adrenal myelolipomas in a 39-year-old man with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilisation. Phenotypically, he is a man of short stature and has hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was consistent with primary adrenal insufficiency. An abdominal CT showed bilateral adrenal myelolipomas. An MRI of the pelvis revealed female reproductive organs. Chromosome study showed a karyotype of 46,XX. A CYP21A2 gene mutation confirmed diagnosis of CAH with 21-hydroxylase deficiency. The patient was treated with stress dose corticosteroids, subsequently tapered to physiological doses. We review previously reported cases and discussed diagnosis and treatment, including hormonal therapy and psychological approach.

scholarly journals Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia

2019 ◽  
Vol 92 (3) ◽  
pp. 157-161
Author(s):  
Mimi S. Kim ◽  
Christina M. Koppin ◽  
Pankhuri Mohan ◽  
Fariba Goodarzian ◽  
Heather M. Ross ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Infants And Toddlers ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

scholarly journals Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme

2020 ◽  
Vol 6 (3) ◽  
pp. 63
Author(s):  
Fei Lai ◽  
Shubha Srinivasan ◽  
Veronica Wiley
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Screening Programme ◽  
New South ◽  
New South Wales ◽  
Policy Framework ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Newborn Screening Programme ◽  
South Wales

In Australia, all newborns born in New South Wales (NSW) and the Australia Capital Territory (ACT) have been offered screening for rare congenital conditions through the NSW Newborn Screening Programme since 1964. Following the development of the Australian Newborn Bloodspot Screening National Policy Framework, screening for congenital adrenal hyperplasia (CAH) was included in May 2018. As part of the assessment for addition of CAH, the national working group recommended a two-tier screening protocol determining 17α-hydroxyprogesterone (17OHP) concentration by immunoassay followed by steroid profile. A total of 202,960 newborns were screened from the 1 May 2018 to the 30 April 2020. A threshold level of 17OHP from first tier immunoassay over 22 nmol/L and/or top 2% of the daily assay was further tested using liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profiling for 17OHP (MS17OHP), androstenedione (A4) and cortisol. Samples with a ratio of (MS17OHP + A4)/cortisol > 2 and MS17OHP > 200 nmol/L were considered as presumptive positive. These newborns were referred for clinical review with a request for diagnostic testing and a confirmatory repeat dried blood spot (DBS). There were 10 newborns diagnosed with CAH, (9 newborns with salt wasting CAH). So far, no known false negatives have been notified, and the protocol has a sensitivity of 100%, specificity of 99.9% and a positive predictive value of 71.4%. All confirmed cases commenced treatment by day 11, with none reported as having an adrenal crisis by the start of treatment.

scholarly journals Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood

2017 ◽  
Vol 6 (7) ◽  
pp. 422-429 ◽  
Author(s):  
Anne Bachelot ◽  
Magaly Vialon ◽  
Amandine Baptiste ◽  
Isabelle Tejedor ◽  
Caroline Elie ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Congenital Adrenal Hyperplasia ◽  
Psychological Health ◽  
Adult Patients ◽  
Adrenal Hyperplasia ◽  
Adult Care ◽  
Related Quality ◽  
The Impact

Background Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. Methods Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the QoL (WHOQOL-BREF). Results Seventy-three patients were included in the study, among them 59/73 were transferred to adult endocrinologist by their pediatricians for transition. WHOQOL-BREF scores were similar between patients with or without transition to specialist adult services, except for environment dimension score, which was slightly higher in CAH patients without transition. However, CAH patients with a regular follow-up had a better physical health, psychological health and environment score and item global QoL than the group without regular follow-up after transition. Conclusion Regular medical follow-up in adulthood is associated with the transition between pediatric and adult care and is associated with better QoL in adults with CAH.

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