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DOI :10.26650/B/CH32.2024.010.033   IUP :10.26650/B/CH32.2024.010.033    Full Text (PDF)

Follow-up and Community Care of the Child with Congenital Adrenal Hyperplasia

Ummahan Tercan

Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency in children. The most common cause of CAH is 21-hydroxylase deficiency, and the second most common cause is 11-beta hydroxylase deficiency; there are two types of 21-hydroxylase deficiency: classical and non-classical. The classical 21-hydroxylase deficiency is further divided into two subtypes: salt-wasting and simple virilizing. In our country, recent newborn screening programs have identified the incidence of 21-hydroxylase deficiency as 1:15,067 and the incidence of 11-beta hydroxylase deficiency as 1:60,270, and CAH has been included in the national newborn screening program. In classical 21-hydroxylase deficiency, since there is no ambiguous genital structure in boys, the diagnosis can be delayed compared to girls. Early diagnosis and treatment of newborns with 21-hydroxylase deficiency are of vital importance. Genetic counseling and opportunities for prenatal diagnosis and treatment are available in experienced centers. In the long term, growth-puberty, obesity-insulin resistance-cardiovascular problems, adrenal rest tissue and adrenal mass development, fertility status, and bone health are monitored. Children with CAH should receive all vaccinations recommended by the Ministry of Health appropriate for their age, including the annual influenza vaccine. Balanced nutrition with adequate calcium support is recommended. Regular physical activity is important in these children who are at risk for developing metabolic syndrome. Children with CAH should be supported to integrate well in school and social environments. Teachers and staff need to be educated about the signs and symptoms of possible acute trauma, stress, or adrenal crisis situations. On the website of the Pediatric Endocrinology and Diabetes Association, there are easily understandable and accessible information booklets for families to inform the public. In treatment, glucocorticoid and mineralocorticoid replacement therapy is administered, and surgical treatment is performed to correct the external genital structure. Monitoring is carried out at regular intervals for treatment efficacy and side effects. Meeting the psychological support needs of individuals with CAH for psychosocial adaptation and mental health is important.


DOI :10.26650/B/CH32.2024.010.033   IUP :10.26650/B/CH32.2024.010.033    Full Text (PDF)

Konjeni̇tal Adrenal Hi̇perplazi̇ Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

Ummahan Tercan

Çocuklarda primer adrenal yetersizliğin en sık nedeni konjenital adrenal hiperplazi ’dir. Konjenital adrenal hiperplazinin (KAH) en sık sebebi 21-hidroksilaz eksikliği ikinci en sık sebebi 11-beta hidroksilaz eksikliğidir; 21-hidroksilaz eksikliğinin klasik ve klasik olmayan olarak iki tipi vardır. Klasik 21-hidroksilaz eksikliği ise tuz kaybettiren ve basit virilizan olmak üzere iki alt tipe ayrılır. Ülkemizde yakın zamanda yenidoğan tarama programı ile 21-hidroksilaz eksikliği insidansı:15 067, 11- beta hidroksilaz eksikliği insidansı ise 1:60 270 saptanmış, KAH ulusal yenidoğan tarama programı içine alınmıştır. Klasik 21-hidroksilaz eksikliğinde erkeklerde kuşkulu genital yapı olmadığından, kızlardan farklı olarak tanı gecikebilir. 21-hidroksilaz eksikliği olan yenidoğan bebeklerin erken tanı ve tedavisi hayati önem taşımaktadır. Genetik danışma ve deneyimli merkezlerde prenatal tanı ve tedavi olanağı mevcuttur. Uzun dönemde büyüme-puberte, obezite-insülin direnci-kardiyovasküler sorunlar, adrenal kalıntı dokusu ve adrenal kitle gelişimi, fertilite durumu ve kemik sağlığı açısından takip edilir. KAH’si olan çocuklara yaşına uygun Sağlık Bakanlığı tarafından önerilen tüm aşılar ve yıllık influenza aşısı yapılmalıdır. Dengeli beslenme ile yeterli kalsiyum desteği sağlanması önerilir. Metabolik sendrom gelişme riski bulunan bu çocuklarda düzenli fiziksel aktivite önemlidir. KAH’si olan çocukların okulda ve sosyal ortamlarında uyum içinde olmaları desteklenmelidir. Olası akut travma, stres veya adrenal kriz durumlarının belirti ve bulguları için öğretmen ve personelin bilinçlendirilmesi gerekmektedir. Çocuk Endokrinoloji ve Diyabet Derneği web sayfasında halkı bilgilendirmek için aileler tarafından kolay anlaşılabilir ve ulaşılabilir bilgilendirme kitapçıkları mevcuttur. Tedavide glukokortikoid ve mineralokortikoid replasmanı uygulanır ve dış genital yapıyı düzeltmek için cerrahi tedavi yapılır. Tedavi etkinliği ve yan etkiler açısından belirli aralıklarla izlemi yapılır. KAH’lı bireylerin psikososyal uyum ve ruh sağlığı açısından psikolojik destek ihtiyaçlarının karşılanması önemlidir.



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