Newborn screening of congenital adrenal hyperplasia

Íñiguez, E. Dulín; Zubicaray, Begoña Ezquieta

doi:10.1016/j.endien.2017.11.015

Cited by 2 publications

(1 citation statement)

References 12 publications

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“…The CAH NBS program has been applied in Sao Paulo/Brazil since 2013. The effectiveness of this public program was demonstrated by the increasing number of male patients, reaching a similar proportion of affected males and females, as expected for an autosomal recessive disorder, and by the increasing frequency of SW in relation to SV patients (70% to 90%) (12)(13)(14).…”

Section: Introductionmentioning

confidence: 69%

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

Lousada

Mendonca

Bachega

2021

Archives of Endocrinology and Metabolism

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Primary adrenal insufficiency (PAI) is characterized by the inability of the adrenal cortex to produce sufficient amounts of glucocorticoids and/or mineralocorticoids. Addison's disease (AD) and congenital adrenal hyperplasia (CAH) are the most frequent disorders in adults and children, respectively. Despite the diagnostic advances and the availability of glucocorticoid and mineralocorticoid replacements, adrenal crisis (AC) is still a potentially lethal condition contributing to the increased mortality, not only during the first year of life, but also throughout life. Failure in increasing glucocorticoid doses during acute stress, when greater amounts of glucocorticoids are required, can lead to AC and an increase morbimortality rate of PAI. Considering a mortality rate of 0.5 per 100 patient years, up to 1,500 deaths from AC are expected in Brazil in the coming decade, which represents an alarming situation. The major clinical features are hypotension and volume depletion. Nonspecific symptoms such as fatigue, lack of energy, anorexia, nausea, vomiting, and abdominal pain are common. The main precipitating factors are gastrointestinal diseases, other infectious disease, stressful events (e.g., major pain, surgery, strenuous physical activity, heat, and pregnancy), and withdrawal of glucocorticoid therapy. Suspected AC requires immediate therapeutic action with intravenous (iv) hydrocortisone, fluid infusion, monitoring support, and antibiotics if necessary. AC is best prevented through patient education, precocious identification and by adjusting the glucocorticoid dosage in stressor situations. The emergency card, warning about acute glucocorticoid replacement, has high value in reducing the morbidity and mortality of AC.

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Section: Introductionmentioning

confidence: 69%

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

Lousada

Mendonca

Bachega

2021

Archives of Endocrinology and Metabolism

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Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Arriba

Ezquieta

2022

Front. Endocrinol.

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Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases. CYP21A2 genotyping requires careful analyses that guaranty gene-specific PCR, accurate definition of pseudogene-gene chimeras, gene duplications and allele dropout avoidance. A small panel of well-established disease-causing alterations enables a high diagnostic yield in confirming/discarding the disorder not only in symptomatic patients but also in those asymptomatic with borderline/positive results of 17-hydroxyprogesterone. Unfortunately, the complexity of this locus makes it today reluctant to high throughput techniques of massive sequencing. The strong relationship existing between the molecular alterations and the degree of enzymatic deficiency has allowed genetic studies to demonstrate its usefulness in predicting/classifying the clinical form of the disease. Other aspects of interest regarding molecular studies include its independence of physiological variations and analytical interferences, its usefulness in the diagnosis of simple virilizing forms in males and its inherent contribution to the genetic counseling, an aspect of great importance taking into account the high carrier frequency of CAH in the general population. Genetic testing of CYP21A2 constitutes an irreplaceable tool to detect severe alleles not just in family members of classical forms but also in mild late-onset forms of the disease and couples. It is also helpful in areas such as assisted reproduction and preimplantation diagnosis. Molecular diagnosis of 21-OHD under expert knowledge definitely contributes to a better management of the disease in every step of the clinical course.

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Newborn screening of congenital adrenal hyperplasia

Cited by 2 publications

References 12 publications

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

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

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

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