Konjenital adrenal hiperplazili hastalarda final boyun değerlendirilmesi

Öz

Amaç: Konjenital adrenal hiperplazi (KAH), adrenal kortekste kolesterolden glukokortikoid, mineralokortikoid ve seks steroidinin sentezi için gerekli olan enzimlerden herhangi birinin eksikliği sonucu ortaya çıkan otozomal resesif bir hastalıktır. Bu çalışmada 21-hidroksilaz ve 11 Beta hidroksilaz eksikliğine bağlı KAH hastalarında son boy uzunluğunun değerlendirilmesi ve bunu etkileyen faktörlerin araştırılması amaçlandı. Gereç ve yöntem: Çocuk Endokrinoloji Kliniğinde KAH tanısı konulan hastaların antropometrik, klinik ve laboratuvar bulguları retrospektif olarak değerlendirildi. Çalışmaya düzenli kontrolleri olan, takiplerinde erken puberte geçirmeyen, takiplerinde ek hastalığı olmayan ve son boya ulaşan 39 KAH hastası dahil edildi. Bulgular: 21 hidroksilaz eksikliğine bağlı klasik basit virilizan KAH'lı kadın olgularda final boy 158,2±5,46 cm, erkek olgularda final boy 168,8±11,67 cm, tuz kaybettiren tip kadın olgularda final boy 152,2±5,94 cm, tuz kaybettiren erkek olgularda final boy ise 156,5±6,2 cm idi. Non-Klasik kadın olgularda final boy 155,9±7,59 cm, 1 erkek olguda ise final boy 157 cm olarak tespit edildi. Klasik tip KAH olgularının tamamının final boy SD-1,41±1,45 SD olup, basit virilize tip klasik KAH olgularında -0,81±1,12 (-2,30-0,80), tuz tüketen tip klasik KAH vakalarında -1,79±1,53 (-3,70-0,70) olarak hesaplandı. Klasik olmayan KAH vakalarında son boy SD'si -1,65±1,69 SD olarak hesaplandı. Tuz kaybettiren KAH ve basit virilize KAH'lı hastalar final boy SD'si ve genetiğe göre düzeltilmiş boy SD'si açısından karşılaştırıldığında, basit virilize KAH'lı hastaların final boyları anlamlı derecede yüksek (p<0,05) ve 11 Beta hidroksilaz eksikliği olan hastaların final boyları ise vakaları tüm gruplara göre anlamlı olarak daha kısaydı (p<0,05). KAH'ta hem yetersiz tedaviden kaynaklanan hiperandrojenizm, hem de yüksek doz glukokortikoid tedavisi boy kısalığına neden olabilir. Bu nedenle KAH tarama programları ile KAH'ın erken tanınması, uygun dozlarda (10-15 mg/m²/gün) glukokortikoid tedavisinin uygulanması ve metabolik kontrol takibi açısından hastaların düzenli aralıklarla değerlendirilmesi gerekmektedir. Sonuç: Çalışmamızda en iyi ortalama final boy uzunluğu 10-15 mg/m²/gün hidrokortizon dozu kullanan grupta bulundu. 5-10 mg/m²/gün kullanıldığında androjenlerin yeterince baskılanmadığını ve epifizlerin erken kapandığını, >15 mg/m²/gün kullanıldığında ise glukokortikoid fazlalığına bağlı olarak son boyun kısaldığını saptadık.

Anahtar Kelimeler

• Konjenital adrenal hiperplazi
• final boy
• 21-OH eksikliği
• kortikosteroid tedavisi

Evaluation of final heights in patients with congenital adrenal hyperplasia

Abstract

Purpose: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that occurs as a result of a deficiency of any of the enzymes required for the synthesis of glucocorticoids, mineralocorticoids and sex steroids from cholesterol in the adrenal cortex. In this study, we have aimed both to evaluate the final heights in patients with CAH secondary to 21-hydroxylase and 11β- hydroxylase deficiency and also to investigate the factors affecting the final heights. Material and methods: The anthropometric, clinical, and laboratory findings of patients diagnosed with CAH in the Pediatric Endocrinology Clinic were evaluated retrospectively. Among patients who reached their final heights and adhered to their regular control visits, a total of 39 CAH patients without precocious puberty, and any additional disease diagnosed during their follow-up were included in the study. Results: Among cases with 21- hydroxylase deficiency, mean final heights of female, and male patients with classic simple virilizing CAH were 158.2±5.46 cm, and 168.8±11.67 cm, while in salt-wasting CAH the corresponding final heights were 152.2±5.94 cm, and 156.5±6.2 cm, respectively. In the group with non-classic CAH, mean final heights of female, and male patients were 155.9±7.59 cm, and 157 cm, respectively. The final height SD of all classic CAH cases was - 1.41±1.45, and it was calculated as -0.81±1.12 (-2.30-0.80) in cases with simple virilizing type classic CAH and -1.79±1.53 (-3.70-0.70) in cases with salt-wasting type classic CAH. In non-classic CAH cases, the final height SD was calculated as -1.65±1.69. When patients with salt-wasting CAH and simple virilizing CAH were compared in terms of final height SDs and genetically adjusted height SDs, the final heights of patients with simple virilizing CAH were significantly higher (p<0.05), and the final heights of cases with 11 β- hydroxylase deficiency were significantly shorter than all groups (p<0.05). In CAH, both hyperandrogenism resulting from inadequate treatment and high-dose glucocorticoid treatment may result in a comparatively shorter final height. For this reason, patients should be evaluated at regular intervals in terms of early recognition of CAH through CAH screening programs, administration of glucocorticoid therapy in appropriate doses (10-15 mg/m²/day), and metabolic control monitoring. Conclusion: In our study, the best average final height was found in the group using hydrocortisone dose of 10-15 mg/m²/day. We have revealed that when daily doses ranging between 5-10 mg/m² were used, androgens were not suppressed sufficiently and the epiphyses closed prematurely, and in cases where daily doses exceeding 15 mg/m² were administered, the final heights were relatively shorter due to the use of excess doses of glucocorticoids.

Keywords

• congenital adrenal hyperplasia
• 21-OH deficiency
• final height
• corticosteroid treatment

Kaynakça

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