scholarly journals Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia

2021 ◽  
Author(s):  
Lia Mesquita Lousada ◽  
Berenice B. Mendonca ◽  
Tania A. S. S. Bachega
Keyword(s):  
Mortality Rate ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia

scholarly journals Quality of compounded hydrocortisone capsules used in the treatment of children

2017 ◽  
Vol 177 (2) ◽  
pp. 239-242 ◽  
Author(s):  
Uta Neumann ◽  
Daniela Burau ◽  
Sarah Spielmann ◽  
Martin J Whitaker ◽  
Richard J Ross ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
High Performance ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Web Based ◽  
Vulnerable Patients ◽  
Dose Information ◽  
Patients At Risk

Objectives Due to the lack of paediatric-licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this ‘real world’ evaluation of pharmacy-compounded paediatric hydrocortisone capsules. Methods Capsule samples were collected randomly from volunteering parents of treated children suffering from congenital adrenal hyperplasia from all over Germany. Analysis of net mass and hydrocortisone content by high-performance liquid chromatography with ultraviolet (HPLC-UV) detection method was performed based on the European Pharmacopeia. Results In a total of 61 batches that were sent, 5 batches could not be analysed because of missing dose information, insufficient number of capsules or were not possible to be evaluated. Fifty-six batches containing 1125 capsules were evaluated. 21.4% of the batches revealed insufficiency in uniformity of net mass or drug content and additional 3.6% failed because they did not contain the labelled drug. Conclusions Compounded medication is a possible cause of variation of steroid doses in children with adrenal insufficiency or congenital adrenal hyperplasia, putting these vulnerable patients at risk of poor disease control and adrenal crisis. These data may apply to other individualized compounded oral medication as well, emphasizing the need for development of licensed paediatric formulations approved by regulatory authorities.

scholarly journals Adverse Effects of Ramadan Fasting in a Girl with Salt-Losing Congenital Adrenal Hyperplasia

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Valeria Calcaterra ◽  
Francesco Bassanese ◽  
Andrea Martina Clemente ◽  
Rossella Amariti ◽  
Corrado Regalbuto ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Treatment Plan ◽  
Management Plan ◽  
Hormonal Control ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Ramadan Fasting ◽  
Salt Wasting ◽  
Classic Form

Objective. Congenital adrenal hyperplasia (CAH) is the most common cause of adrenal insufficiency in pediatrics. Chronic glucocorticoid replacement is the mainstay of treatment in the classic forms of CAH, and mineralocorticoid replacement therapy is mandatory in the salt-wasting form. Fasting is a mild stressor, which can expose to dehydration, hypotension, hypoglycemia, and acute adrenal crisis in patients with adrenal insufficiency. Case. We report the case of an adolescent affected by the classic form with salt-losing CAH, who observed Ramadan for 30 days, without individualized therapeutic management plan. After Ramadan, a dramatic increase of ACTH level (1081 pg/ml, n.v. 6–57), reduced cortisolemia, tendency to hypotension, and weight loss were recorded. She experienced insomnia, intense thirst, asthenia, and headache. The symptoms disappeared restarting the previous therapy schedule and increasing the total hydrocortisone daily dose with progressive restoring of hormonal control. Conclusion. Our case confirms that patients with CAH are vulnerable, especially during fasting in Ramadan, with a higher risk of acute adrenal crisis. CAH patients should reform and individualize their treatment plan and be submitted to careful monitoring.

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 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 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 Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia

2020 ◽  
Vol 106 (1) ◽  
pp. e192-e203
Author(s):  
Salma R Ali ◽  
Jillian Bryce ◽  
Houra Haghpanahan ◽  
James D Lewsey ◽  
Li En Tan ◽  
...  
Keyword(s):  
Adverse Events ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Real World ◽  
Median Number ◽  
Adrenal Hyperplasia ◽  
Real World Data ◽  
Hydroxylase Deficiency ◽  
Middle Income ◽  
21 Hydroxylase Deficiency

Abstract Background Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is less clear. Methods Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income Countries (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analyzed to examine the clinical factors associated with SDE and AC. Results A total of 518 children—with a median of 11 children (range 1, 53) per center—had 5388 visits evaluated over a total of 2300 patient-years. The median number of AC and SDE per patient-year per center was 0 (0, 3) and 0.4 (0.0, 13.3), respectively. Of the 1544 SDE, an AC was reported in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event, reported in 1105 (72%) and 29 (47%) of SDE and AC, respectively. On comparing cases from LMIC and HIC, the median SDE per patient-year was 0.75 (0, 13.3) vs 0.11 (0, 12.0) (P < 0.001), respectively, and the median AC per patient-year was 0 (0, 2.2) vs 0 (0, 3.0) (P = 0.43), respectively. Conclusions The real-world data that are collected within the I-CAH Registry show wide variability in the reported occurrence of adrenal insufficiency–related adverse events. As these data become increasingly used as a clinical benchmark in CAH care, there is a need for further research to improve and standardize the definition of SDE.

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