Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Reisch, Nicole; Willige, Marina; Kohn, Denise; Schwarz, Hans‐Peter; Allolio, Bruno; Reincke, Martín; Quinkler, Marcus; Hahner, Stefanie; Beuschlein, Felix

doi:10.1530/eje-12-0161

Cited by 120 publications

(107 citation statements)

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“…As a result of this modification, the method for adrenal crisis management at the hospital (e.g., oral glucocorticoid stress dosing) cannot lead to the exclusion of obvious adrenal crises. However, in spite of differing definitions, the number of adrenal crises per patient years found in our cohort was similar to that of a German group of patients, aged 18-69 years, reported in 2012 (16). Due to a small number of events, the crisis frequency has a wide confidence interval.…”

Section: Discussionsupporting

confidence: 85%

“…There were complaints about difficulties in convincing healthcare workers to observe the presented emergency documents. These findings support the need for optimal crisis prevention strategies (14,16), including education, training, empowerment and support of all parents and patients (9,26,29), clear emergency documents (7,30), easily accessible information for professionals (31), and the sensitization of healthcare workers (9,16,27,32). The high number of cases without parenteral application of a glucocorticoid in spite of repeated vomiting might be reduced if -instead of i.m.…”

Section: Discussionmentioning

confidence: 57%

“…Most reports on adrenal crises or clinical outcomes concern CAH patients who were born before the introduction of CAH neonatal screening (12,13). Among the few studies on adrenal crises in patients with multiple causes of adrenal insufficiency (14,15), there is only one study exclusively concerning CAH patients (16). In these studies, the frequency of adrenal crises ranged between 5 and 10 per 100 patient years, and crises were triggered mostly by infections and often by non-compliance with recommendations, or by treatment errors.…”

Section: Introductionmentioning

confidence: 99%

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Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Odenwald

Nennstiel-Ratzel

Dörr

et al. 2016

European Journal of Endocrinology

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Objective: To evaluate adrenal crises after the start of treatment up to the age of 6 years in children with classic congenital adrenal hyperplasia (CAH). Design: Analysis of data extracted from a population-based prospective long-term follow-up study of children detected in neonatal screening. Methods: Data of 102 Bavarian children with classic CAH due to 21-hydroxylase deficiency were analyzed, using parental questionnaires and medical reports. Parent-reported hospital admissions of children diagnosed with acute health impairment were included in the analysis if salt loss (hyponatremia) or hypoglycemia was documented in the discharge summary. Results: A total of 74 children (72.5%) had no report of hospital admissions with salt loss or hypoglycemia during the observational period. However, in 27.5% of the children, 22 salt-wasting crises (seven of these also with low blood glucose) and 16 hypoglycemic episodes without salt loss were reported. Furthermore, the cumulative incidence for seizures was elevated; 13 children experienced seizures during hyponatremia or hypoglycemia. Most adrenal crises were triggered by infections, often with inappropriate emergency management, but in 11 cases hypoglycemia occurred unexpectedly, without evidence of severe illness and without any management errors. Frequency of adrenal crises was 6.5 per 100 patient years (95% CI: 4.6-8.8). Conclusions: Crisis prevention remains a permanent challenge for families and physicians caring for children with classic CAH. Expert care and compliance with emergency recommendations are crucial. Further research on the interactions among glucocorticoid deficiency, adrenomedullary dysfunction, and glucose metabolism is necessary for the prevention of hypoglycemia, especially in young CAH patients.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 57%

Section: Introductionmentioning

confidence: 99%

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Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Odenwald

Nennstiel-Ratzel

Dörr

et al. 2016

European Journal of Endocrinology

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“…Table 3 shows the incidence of adrenal crisis in patients after BADx. Incidences of 4.1-9.1 per 100 patient-years are within the range of adrenal crisis that results from other causes of glucocorticoid deficiency, such as Addison's disease, secondary adrenal insufficiency and congenital adrenal hyperplasia (46,47,48).…”

Section: Clinical Outcomes and Complicationsmentioning

confidence: 95%

A critical reappraisal of bilateral adrenalectomy for ACTH-dependent Cushing's syndrome

Reincke

Ritzel

Oßwald

et al. 2015

European Journal of Endocrinology

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Objective: Our aim was to review short-and long-term outcomes of patients treated with bilateral adrenalectomy (BADx) in ACTH-dependent Cushing's syndrome. Methods: We reviewed the literature and analysed our experience with 53 patients treated with BADx since 1990 in our institution. Results: BADx is considered if ACTH-dependent Cushing's syndrome is refractory to other treatment modalities. In Cushing's disease (CD), BADx is mainly used as an ultima ratio after transsphenoidal surgery and medical therapies have failed. In these cases, the time span between the first diagnosis of CD and treatment with BADx is relatively long (median 44 months). In ectopic Cushing's syndrome, the time from diagnosis to BADx is shorter (median 2 months), and BADx is often performed as an emergency procedure because of life-threatening complications of severe hypercortisolism. In both situations, BADx is relatively safe (median surgical morbidity 15%; median surgical mortality 3%) and provides excellent control of hypercortisolism; Cushing's-associated signs and symptoms are rapidly corrected, and co-morbidities are stabilised. In CD, the quality of life following BADx is rapidly improving, and long-term mortality is low. Specific long-term complications include the development of adrenal crisis and Nelson's syndrome. In ectopic Cushing's syndrome, long-term mortality is high but is mostly dependent on the prognosis of the underlying malignant neuroendocrine tumour. Conclusion: BADx is a relatively safe and highly effective treatment, and it provides adequate control of long-term co-morbidities associated with hypercortisolism.European Journal of Endocrinology (2015) 173, M23-M32 Invited Author's profile Prof. Martin Heinrich Reincke is Director of the Medizinische Klinik and Poliklinik IV, Ludwig-MaximiliansUniversität München, and Chair of the Department of Endocrinology and Diabetology. His research specialities include adrenal physiology and pathophysiology, endocrine hypertension, pituitary disease, mineralocorticoid and glucocorticoid action and stress research. Professor Reincke heads a research team that specifically explores the prevalence and relevance of Cushing's syndrome at the epidemiological, clinical, genetic and molecular levels. The research teams of his clinic have particular expertise in assay development and validation for endocrine disease and in the development of genetically manipulated animals as models for human adrenal disease.

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“…Az újszülöttkori sóvesztő krízistől eltekintve a mellékvesekrízis gyakorisága 4-5/100 beteg/év [30], amely a mai ellátási körülmények között is végződhet a beteg halálával [31]. A hidrokortizonadag emelése (6-8×-i alkalmazás szájon át a szokásos 3-4×-i helyett) javasolt lázas betegség esetén.…”

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Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

et al. 2018

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A congenitalis adrenalis hyperplasiát 7 monogénes genetikai betegség összességének tekintjük, melyekből az egyik a szteroid-21-hidroxiláz-deficientia. A congenitalis adrenalis hyperplasia összes kóroki génje a mellékvese szteroidogenezisében vesz részt. A szteroid-21-hidroxiláz-deficientia autoszomális recesszív betegség, amelyért a szteroid-21-hidroxilázt kódoló gén mutációi a felelősek. A szteroid-21-hidroxiláz gén mutációi a congenitalis adrenalis hyperplasiás esetek 95%-át okozzák. Bár az enyhe tünetekkel együtt járó nem-klasszikus szteroid-21-hidroxiláz-deficientiát ritkán diagnosztizálják, a klasszikus szteroid-21-hidroxiláz-deficientia az aldoszteron-és a kortizolelválasztás elégte-lensége miatt életveszélyes sóvesztő és adrenalis krízissel járhat együtt. A klasszikus típus élethosszig tartó szteroidpótlást igényel, amely cushingoid mellékhatásokkal járhat együtt, illetve a betegség talaján jellemző komorbiditások szintén kialakulhatnak. A betegek életminősége csökkent, mortalitásuk többszöröse a betegségben nem szenvedő populációnak. A betegség diagnosztikája, következményei és a betegek egész életét végigkísérő klinikai ellátás multidiszciplináris megközelítést kíván: a gyermekgyógyászat, a belgyógyászat, az endokrinológia, a laboratóriumi medicina, a genetikai diagnosztika, a sebészet, a szülészet-nőgyógyászat és a pszichológia szakembereinek együttes munkáját igényli. Orv Hetil. 2018; 159(7): 269-277.Kulcsszavak: congenitalis adrenalis hyperplasia, CYP21A2, sóvesztő krízis, szteroid-21-hidroxiláz-deficientia, szteroidpótlás, virilisatio Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasiaCongenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene. The mutations of steroid 21-hydroxylase gene cause 95% of the congenital adrenal hyperplasia cases. Although the non-classic steroid 21-hydroxylase deficiency with mild symptoms is seldom diagnosed, the classic steroid 21-hydroxylase deficiency may lead to life-threatening salt-wasting and adrenal crises due to the insufficient aldosterone and cortisol serum levels. The classic type requires life-long steroid replacement which may result in cushingoid side effects, and typical comorbidities may be also developed. The patients' quality of life is decreased, and their mortality is much higher than that of the population without steroid 21-hydroxylase deficiency.DOI: 10.1556/650.2018.30986 *Doleschall Márton és Török Dóra mindketten első szerzők; egyenlő mértékben járultak hozzá a közlemény elkészítéséhez.

show abstract

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Cited by 120 publications

References 20 publications

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

A critical reappraisal of bilateral adrenalectomy for ACTH-dependent Cushing's syndrome

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

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