scholarly journals Devastating Salt-wasting Crisis in a Four-month-old Male Child with Congenital Adrenal Hyperplasia, Highlighting the Essence of Neonatal Screening

2021 ◽  
Author(s):  
Nagaspurthy Reddy ◽  
Sucheta Sharma ◽  
Mainak Das ◽  
Ashutosh Kapoor ◽  
Upasana Maskey
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Male Child ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Severe Deficiency ◽  
Life Threatening ◽  
Threatening Situation

Classic Congenital Adrenal Hyperplasia in males usually presents late until before puberty, but rarely at birth. In cases of undiagnosed CAH, severe deficiency of cortisol may lead to life threatening situation in an infant with acute salt losing crisis. Screening for CAH at birth can lead to better outcomes.

scholarly journals High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

2002 ◽  
Vol 87 (9) ◽  
pp. 4106-4110 ◽  
Author(s):  
Michael Steigert ◽  
Eugen J. Schoenle ◽  
Anna Biason-Lauber ◽  
Toni Torresani
Keyword(s):  
Positive Predictive Value ◽  
Congenital Adrenal Hyperplasia ◽  
Predictive Value ◽  
Neonatal Screening ◽  
Screening Program ◽  
High Reliability ◽  
Dried Blood Spots ◽  
Recall Rate ◽  
Adrenal Hyperplasia ◽  
Salt Wasting

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children’s Hospital, 50% of the population of Switzerland is screened. The aim of the study was to evaluate the efficiency of the Zurich screening program. Between January 1, 1993, and May 31, 2001, 333,221 newborns were screened for CAH. Thirty-one newborns had CAH (incidence, 1 in 10,749); 30 were detected through screening (sensitivity, 97%). A recall for suspected CAH was performed in only 60 cases, corresponding to a very low recall rate (0.0018%). In 30 recalls CAH was confirmed (positive predictive value, 50%; specificity, 99.99%). Fifteen of 31 patients profited from screening, as CAH had not been recognized clinically. The timely availability of screening results made therapy possible within the first week of life in most cases and helped in preventing salt-wasting crisis in all patients. With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable.

scholarly journals Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

2014 ◽  
Vol 58 (7) ◽  
pp. 765-771 ◽  
Author(s):  
Marilza Leal Nascimento ◽  
Anísia Nhelety Baptista Cristiano ◽  
Tatiane de Campos ◽  
Masanao Ohira ◽  
Edson Cechinel ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Screening Program ◽  
Clinical Manifestations ◽  
The State ◽  
Adrenal Hyperplasia ◽  
Santa Catarina ◽  
Salt Wasting ◽  
Neonatal Screening Program ◽  
Treatment Onset

Objective Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Subjects and methods Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child’s age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. Results The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. Conclusions The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

2019 ◽  
Vol 104 (7) ◽  
pp. 653-657 ◽  
Author(s):  
Annelieke A A van der Linde ◽  
Yvonne Schönbeck ◽  
Hetty J van der Kamp ◽  
Erica L T van den Akker ◽  
Mirjam E van Albada ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
High Specificity ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Period 2 ◽  
Classic Cah ◽  
Screening Sensitivity ◽  
Simple Virilizing ◽  
Screening Result

BackgroundIn 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known.MethodsRetrospective, descriptive study. The following data of patients with positive screening results since implementation of the screening programme were collected (1 January 2002 up until 31 December 2013): gestational age, sex, diagnosis, clinical presentation and contribution of screening to the diagnosis.ResultsIn the evaluated period, 2 235 931 newborns were screened. 479 children had an abnormal screening result, 133 children were diagnosed with CAH (114 SW, 14 simple virilizing (SV)), five non-classic CAH. During this period, no patients with SW CAH were missed by neonatal screening (sensitivity was 100%). After exclusion of 17 cases with missing information on diagnosis, specificity was 99.98% and positive predictive value was 24.7%. Most false positives (30%) were attributable to prematurity. Of patients with SW CAH, 68% (71/104) patients were detected by neonatal screening and 33 (33/104) were clinically diagnosed. Of girls with SW CAH, 38% (14/37) were detected by neonatal screening and 62% (23/37) were clinically diagnosed.ConclusionThe Dutch neonatal screening has an excellent sensitivity and high specificity. Both boys and girls can benefit from neonatal screening.

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

2016 ◽  
Vol 174 (2) ◽  
pp. 177-186 ◽  
Author(s):  
Brigitte Odenwald ◽  
Uta Nennstiel-Ratzel ◽  
Helmuth-Günther Dörr ◽  
Heinrich Schmidt ◽  
Manfred Wildner ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Hospital Admissions ◽  
Discharge Summary ◽  
Severe Illness ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Classic Cah ◽  
21 Hydroxylase Deficiency

ObjectiveTo evaluate adrenal crises after the start of treatment up to the age of 6 years in children with classic congenital adrenal hyperplasia (CAH).DesignAnalysis of data extracted from a population-based prospective long-term follow-up study of children detected in neonatal screening.MethodsData 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.ResultsA 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).ConclusionsCrisis 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.

scholarly journals Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

2021 ◽  
Author(s):  
Heike Hoyer-Kuhn ◽  
Angela Huebner ◽  
Annette Richter-Unruh ◽  
Markus Bettendorf ◽  
Tilman Rohrer ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Daily Practice ◽  
Linear Regression Models ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Comprehensive Information ◽  
Custom Made ◽  
Classic Cah ◽  
Simple Virilizing

Objective: Treatment in classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess. Hydrocortisone (HC) is preferred in growing children with classic CAH, but recommendations regarding dosage/administration are inconsistent. Aim of the study was to evaluate HC dosing in children with CAH in relation to chronological age, sex, and phenotype based on a multicentre CAH registry. Design: The CAH registry was initiated in 1997 by the AQUAPE in Germany. On December 31st 2018, data from 1571 patients were included. Methods: A custom-made electronic health record software is used at the participating centres. Pseudonymized data are transferred for central analysis. Parameters were selected based on current guidelines. Descriptive analyses and linear regression models were implemented with SAS 9.4. Results: We identified 1288 patients on exclusive treatment with hydrocortisone three times daily (604 boys; median age 7.2 years; 817 salt-wasting phenotype, 471 simple-virilizing phenotype). The mean [lower-upper quartiles] daily HC dose [mg/m² body surface area] was 19.4 [18.9-19.8] for patients <3 months (n=329), 15.0 [14.6-15.3] age ≥3-12 months (n=463), 14.0 [13.7-14.3] age 1-5.9 years (n=745), 14.2 [14.0-14.5] age 6 years-puberty entry (n=669), and 14.9 [14.6-15.2] during puberty-18 years (n=801). Fludrocortisone was administered in 74.1% of patients (median daily dosage 88.8 µg). Conclusion: Our analyses demonstrated still a high proportion of children with HC doses higher than recommended. This evaluation provides comprehensive information on nationwide hydrocortisone substitution dosages in children with CAH underlining the benefit of systematic data within a registry to assess daily practice.

scholarly journals Adrenomedullary Function in Cohort of Brazilian Pediatric Patients with Classic Congenital Adrenal Hyperplasia

2021 ◽  
Vol 2 (1) ◽  
pp. 20
Author(s):  
Talita Soriano Cruz Hovland ◽  
Izabel Calland Ricarte Beserra
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cross Sectional Study ◽  
Primary Hypothyroidism ◽  
Control Group ◽  
Adrenal Hyperplasia ◽  
Cross Sectional ◽  
Salt Wasting ◽  
Clinical Complications ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Significant Difference

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders resulting from deficiency of enzymes essential for the synthesis of cortisol. Disease of the adrenal cortex, but there may be involvement adrenomedullary. Cortisol and epinephrine are directly related to the individual’s stress response. Lower values of epinephrine in children with congenital adrenal yperplasia could be related to increased clinical complications and hospitalizations rate. We evaluated the serum values of metanephrines and normetanephrines in children and adolescents with classic congenital adrenal hyperplasia and primary hypothyroidism and possible correlations with disease and hospitalizations. Cross-sectional study involved 29 patients (10 simple virilizing and 19 salt-wasting), and control group of 28 patients with primary hypothyroidism (10 overt and 18 subclinical). There were no differences in age (p = 0.24) and metanephrine (p = 0.34) or normetanephrine values (p = 0.85) between groups.Hospitalization rate was higher in the cases than in the controls (51 x 12).We conclude the serum values of metanephrine and normetanephrine in patients with congenital adrenal hyperplasia were within the normal values of reference, with no significant difference of group with primary hypothiroidism. The number of hospitalizations in the case was high in relation to the control, mainly in salt-wasting.

scholarly journals Increased Mortality in Patients With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2014 ◽  
Vol 99 (12) ◽  
pp. E2715-E2721 ◽  
Author(s):  
Henrik Falhammar ◽  
Louise Frisén ◽  
Christina Norrby ◽  
Angelica Lindén Hirschberg ◽  
Catarina Almqvist ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Causes Of Death ◽  
Population Based ◽  
Personal Identification ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency

Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: This study sought to study mortality and causes of death in CAH. Design, Setting, and Participants: We studied patients with CAH (21-hydroxylase deficiency, n = 588; CYP21A2 mutations known, &gt;80%), and compared them with controls (n = 58 800). Data were derived through linkage of national population-based registers. Main Outcome Measures: Mortality and causes of death. Results: Mean age of death was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls (P &lt; .001). Among patients with CAH, 23 (3.9%) had deceased compared with 942 (1.6%) of controls. The hazard ratio (and 95% confidence interval) of death was 2.3 (1.2–4.3) in CAH males and 3.5 (2.0–6.0) in CAH females. Including only patients born 1952–2009, gave similar total results but only patients with salt wasting (SW) or with unclear phenotype had an increased mortality. The causes of death in patients with CAH were adrenal crisis (42%), cardiovascular (32%), cancer (16%), and suicide (10%). There were seven additional deaths in CAH individuals with incomplete or reused personal identification number that could not be analyzed using linkage of registers. Of the latter, all except one were deceased before the introduction of neonatal screening in 1986, and most of them in the first weeks of life, probably in an adrenal crisis. Conclusions: CAH is a potentially lethal condition and was associated with excess mortality due to adrenal crisis. The SW phenotype also seemed to have worse outcome in children and adults due to adrenal crisis and not only before the introduction of neonatal screening.

Congenital adrenal hyperplasia

2010 ◽  
pp. 1891-1900
Author(s):  
I.A. Hughes
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Recessive Mutations ◽  
Adrenal Steroidogenesis ◽  
Life Threatening ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) results from enzymatic defects in the pathways of adrenal steroidogenesis, with over 90% of cases being due to 21-hydroxylase deficiency caused by autosomal recessive mutations in the CYP21 gene. Classical presentation—this is in the neonatal period with ambiguous genitalia/virilization of a female infant, with phenotype traditionally subdivided according to the presence (75%) or absence of salt wasting, which in affected males is the sole manifestation (and can, if unrecognized, be life-threatening). Delayed presentations can occur, manifest in women as hirsutism, oligomenorrhoea, and infertility and in men as infertility or testicular adrenal rest tumours....

scholarly journals Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study

2019 ◽  
Vol 12 (1) ◽  
pp. e227565
Author(s):  
Johnny Figueroa Canlas ◽  
Caroline Ponmani
Keyword(s):  
Heart Rate ◽  
Congenital Adrenal Hyperplasia ◽  
Male Infant ◽  
Electrolyte Imbalance ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Nebulised Salbutamol ◽  
Life Threatening ◽  
21 Hydroxylase Deficiency

We report a case of a 10-day-old male infant who presented to the emergency department with severe electrolyte imbalance and life-threatening arrhythmia. The parents reported a 3-day history of poor feeding and lethargy. On examination, he was bradycardic (heart rate of 65 beats/min) with signs of dehydration. His ECG showed broad complex bradycardia. Blood gas showed metabolic acidosis with hyponatraemia and hyperkalaemia. A probable diagnosis of congenital adrenal hyperplasia (CAH) with salt-wasting crisis was made and treatment was commenced. He was given saline bolus, nebulised salbutamol, calcium gluconate and hydrocortisone. Following the above interventions, his heart rate rose to 150 beats/min with a regular sinus rhythm within a period of 40 min. The diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. He was discharged home with hydrocortisone, fludrocortisone and sodium chloride.

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