Faculty Opinions recommendation of Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

2018 ◽  
Author(s):  
Phyllis Speiser
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Adrenal Hyperplasia

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 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.

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.

scholarly journals The ACTH test in the diagnosis of hirsutism

1997 ◽  
Vol 115 (2) ◽  
pp. 1403-1405 ◽  
Author(s):  
Marco Fábio Prata Lima ◽  
Márcia Gaspar Nunes ◽  
Cláudio Emilio Bonduki ◽  
Mauro Abi Haidar ◽  
Geraldo Rodrigues Lima ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Late Onset ◽  
Acth Test ◽  
Adrenal Hyperplasia ◽  
Historical Aspects

The ACTH test has been used to confirm the diagnosis of adrenal insufficiency and the classic and the non-classic adrenal hyperplasia due to the 3-HSD, 21 OH e 110H deficiencies. This article reviews the historical aspects of the use of ACTH in the diagnosis of hirsutism and points out its mains indications. In spite of new biological molecular advances in the diagnosis of adrenal enzymatic deficiencies, the use of the ACTH test can help the physician to predict both genothipus and fenothipus in populations with hyperandrogenic manifestations due to non-classical or late-onset congenital adrenal hyperplasia.

scholarly journals MON-170 Real World Estimates of Adrenal Insufficiency Related Adverse Events in Children with Congenital Adrenal Hyperplasia: On Behalf of the I-CAH Consortium

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Salma R Ali ◽  
Jillian Bryce ◽  
Houra Haghpanahan ◽  
James D Lewsey ◽  
S Faisal Ahmed ◽  
...  
Keyword(s):  
Adverse Events ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Median Duration ◽  
Real World ◽  
Prediction Models ◽  
Median Number ◽  
Individual Risk ◽  
Adrenal Hyperplasia ◽  
Higher Doses

Abstract Background Although congenital adrenal hyperplasia (CAH) is a rare condition, it is the commonest cause of early-onset primary adrenal insufficiency and places the patient at a life-long risk of sick day episodes (SDE) and adrenal crises (AC). Objective To investigate the epidemiology of SDE and AC in an international cohort of patients <18 yrs old with 21-OH deficiency CAH. Methods Multi-level logistic model analysis of data in the International CAH (I-CAH) registry (www.i-cah.org) to examine the clinical associations of SDE, AC, stress-dose days and hospitalisations. Results 518 patients (F, 53%) from 34 centres in 18 countries with a median number of cases per centre of 12 (IQR 1-26), had a total of 5388 reported visits with a median duration of follow-up per patient of 3.1 yrs (IQR 2.5-5.8). Of the 518 patients, 334 (64%) had ≥1 SDE; the median number of SDE per patient year per centre was 1.0 (IQR 0.4-2.2) and the median duration of SDE was 3.0 days (IQR 2.0-5.0). Children between 1-4 yrs and adolescents (15-18 yrs) had a greater risk of SDE [OR 2.02 (95%CI:1.60,2.56) and OR 1.64 (95%CI:1.34,2.02), respectively] and stress-dosing [OR 2.03 (95%CI:1.56,2.60) and OR 1.63 (95%CI:1.32,2.02), respectively] compared to children <1 yr old. Males were more likely to have a SDE [OR 1.40 (95%CI:1.13,1.73) and stress-dosing [OR 1.40 (95%CI:1.12,1.76) than females. An AC was reported in 4% of SDE (62/1544) with 92% of visits associated with hospital admission. Infectious illness was the most frequent associated event and was reported in 72% (1105/1544) of SDE and 47% (29/62) of AC. Males had a higher risk of AC compared to females [OR 1.03 (95%CI:1.03,1.03). Children with salt-wasting CAH were more likely to be hospitalised during a SDE, compared with those with simple-virilising CAH [OR 2.08 (95%CI:0.99,7.91)]. Children receiving glucocorticoid (GC) doses within the hydrocortisone (HC) equivalent dose (ED) of 10-15mg/m2/d were more likely to have SDE [OR 1.66 (95%CI:1.31,2.10), stress-dosing [OR 1.85 (95%CI:1.44,2.37) and AC [OR 1.08 (95%CI:1.08,1.08), p<0.001] than children on HC ED >15mg/m2/day. Similarly, children on HC ED <10mg/m2/d were more likely to have SDE [OR 2.20 (95%CI:1.66,2.90)], stress-dosing [OR 2.37 (95%CI:1.77,3.19)] and AC [OR 8.34 (95%CI:8.33,8.35), p<0.001] than those on higher doses. Children on FC doses between 50-200mcg/day and lower than 50 mcg were less likely to have AC [OR 4.54 (95%CI:4.54,4.55) and OR 8.58 (95%CI:8.57,8.59), respectively] than those on higher doses (>200mcg/day). Oral GC were increased in 74% (1147/1544) of SDE whilst HC injection was administered in 11% (176/1544) of SDE. Conclusions The real-world data within the I-CAH registry are a valuable resource for identifying factors that place a child with CAH at a higher risk of adverse events and can be used in prediction models for calculating individual risk.

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