Bursa Uludağ Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Çocuk Endokrinoloj bölümüne başvuran 21 hidroksilaz eksikliği olan konjenital adrenal hiperplazi hastaların retrospektif olarak değerlendirilmesi
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Dosyalar
Tarih
2024
Kurum Yazarları
Baylan, Ceren
Süreli Yayın başlığı
Süreli Yayın ISSN
Cilt Başlığı
Yayınevi
Bursa Uludağ Üniversitesi
Özet
Konjenital adrenal hiperplazi (KAH), adrenal steroidogenez yolağında enzim eksikliklerine bağlı, otozomal resesif, kalıtsal bir hastalıktır. KAH, en sık 21 hidroksilaz (21-OH) enzim eksikliğine bağlıdır. Bu çalışmada, hastaların klinik başvuru şekillerinin, klinik özelliklerinin ve tiplerinin dağılımınının, laboratuvar, tedavi ve uzun dönem verilerinin değerlendirilmesi ile literatüre katkı sağlanması amaçlanmıştır. Bu nedenle, 1991-2023 yılları arasında 21-OH enzim eksikliği tanısı almış 90 olgu retrospektif olarak değerlendirilmiştir. Hastalar, klasik KAH (klasik tuz kaybettiren [TK] tip, klasik basit virilizan [BV] tip) ve non-klasik tip olarak ayrıldı. Hastaların %62,2'si kadın, %37,8'i erkek idi. Hastaların %88,9'u klasik KAH ( %72,5 TK-%27,5 BV) ve %11,1'i non-klasik KAH tanısı aldı. Klasik TK'de (%62 kadın-%38 erkek), BV'de (%50 kadın-%50 erkek) ve non klasikte (%90 kadın-%10 erkek) izlendi. Klasik TK'de ortanca yaş 18 gün, BV'de 3,76 yıl, non-klasik KAH'ta 8,55 yıl olarak belirlendi. Hastaların %44'ü yenidoğan döneminde tuz kaybı ile tanı aldı. Hastaların %21'inin kardeş, %30'unda ailede KAH ile akraba öyküsü, %29'unda anne baba arasında akraba evliliği olduğu görüldü. En sık başvuru şekli kadınlarda (%85,7) klitoromegali/kuşkulu genitalya, erkeklerde (%32) tuz kaybıydı. Olguların %98'i glukokortikoid, %64'ü mineralokortikoid (MK) alıyordu. MK alanların %17,2'sinin ilerleyen yaşlarda tedavi ihtiyacı olmadı. Kadın hastaların %91,6'sı kuşkulu genital düzeltici operasyon geçirdi. Tedavi sonrası hedef/final boyu bilinen hastalarda kadınların ortalama hedef boyu 157,47±5,78 cm, ortalama final boyları 151,71 cm±9,16; erkeklerde ortalama hedef boyu 168,9±6,47 cm, final boyları 165,4±8,3 ölçüldü. Sonuç olarak tuz kaybı, adrenal kriz gibi hayati tehdit oluşturması nedeniyle hastalığının iyi tanınması, erken dönemde tanı ve tedavisinin başlanması gerekmektedir. KAH, yakın takip ve izlemi gerektiren önemli bir hastalıktır.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive, hereditary disease caused by enzyme deficiencies in the adrenal steroidogenesis pathway. CAH is primarily associated with 21-hydroxylase (21-OH) enzyme deficiency. This study aims to contribute to the literature by evaluating the clinical presentations, features, and distribution of CAH types, along with laboratory, treatment, and long-term data of patients with CAH. Therefore, a retrospective analysis of 90 cases diagnosed with 21-OH enzyme deficiency between 1991 and 2022 was conducted. Patients were classified as having classical CAH (classic salt-wasting [SW] type, classic simple virilizing [SV] type), and non-classical type. Among the patients, 62.2% were female, and 37.8% were male. Notably, 88.9% were diagnosed with classical CAH (72.5% SW, 27.5% SV), and 11.1% were diagnosed with non-classical CAH. The distribution showed 62% female and 38% male in classical SW, 50% female and 50% male in SV, and 90% female and 10% male in non-classical CAH. The median age at diagnosis was 18 days for classical SW, 3.76 years for SV, and 8.55 years for non-classical CAH. Forty-four percent of patients were diagnosed with salt loss during the newborn period. Additionally, 21% had a sibling, 30% had a family history of CAH, and 29% had consanguineous marriages between parents. In females (85.7%), the most common presenting symptom was clitoromegaly/suspected genitalia, while it was salt loss in males (32%). Ninety-eight percent of cases received glucocorticoid treatment, and 64% received mineralocorticoid (MC) treatment. Notably, 17.2% of those receiving MC did not require treatment in later years. Corrective surgery for suspected genitalia was performed in 91.6% of female patients. After the treatment, the average target height for females was 157.47±5.78 cm, and the average final height was 151.71±9.16 cm. For males, the average target height was 168.9±6.47 cm, and the final height was 165.4±8.3 cm. In conclusion, due to life-threatening complications such as salt loss and adrenal crisis, early recognition and initiation of diagnosis and treatment are crucial for CAH. Continuous monitoring and follow-up are essential for managing this significant disease.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive, hereditary disease caused by enzyme deficiencies in the adrenal steroidogenesis pathway. CAH is primarily associated with 21-hydroxylase (21-OH) enzyme deficiency. This study aims to contribute to the literature by evaluating the clinical presentations, features, and distribution of CAH types, along with laboratory, treatment, and long-term data of patients with CAH. Therefore, a retrospective analysis of 90 cases diagnosed with 21-OH enzyme deficiency between 1991 and 2022 was conducted. Patients were classified as having classical CAH (classic salt-wasting [SW] type, classic simple virilizing [SV] type), and non-classical type. Among the patients, 62.2% were female, and 37.8% were male. Notably, 88.9% were diagnosed with classical CAH (72.5% SW, 27.5% SV), and 11.1% were diagnosed with non-classical CAH. The distribution showed 62% female and 38% male in classical SW, 50% female and 50% male in SV, and 90% female and 10% male in non-classical CAH. The median age at diagnosis was 18 days for classical SW, 3.76 years for SV, and 8.55 years for non-classical CAH. Forty-four percent of patients were diagnosed with salt loss during the newborn period. Additionally, 21% had a sibling, 30% had a family history of CAH, and 29% had consanguineous marriages between parents. In females (85.7%), the most common presenting symptom was clitoromegaly/suspected genitalia, while it was salt loss in males (32%). Ninety-eight percent of cases received glucocorticoid treatment, and 64% received mineralocorticoid (MC) treatment. Notably, 17.2% of those receiving MC did not require treatment in later years. Corrective surgery for suspected genitalia was performed in 91.6% of female patients. After the treatment, the average target height for females was 157.47±5.78 cm, and the average final height was 151.71±9.16 cm. For males, the average target height was 168.9±6.47 cm, and the final height was 165.4±8.3 cm. In conclusion, due to life-threatening complications such as salt loss and adrenal crisis, early recognition and initiation of diagnosis and treatment are crucial for CAH. Continuous monitoring and follow-up are essential for managing this significant disease.
Açıklama
Anahtar kelimeler
Konjenital adrenal hiperplazi, 21 hidroksilaz eksikliği, Klasik-non klasik KAH, Tuz kaybı, Cerrahi, Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency, Classical-non-classical CAH, Salt loss, Surgery
Alıntı
Baylan, C. (2024). Bursa Uludağ Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Çocuk Endokrinoloji bölümüne başvuran 21 hidroksilaz eksikliği olan konjenital adrenal hiperplazi hastaların retrospektif olarak değerlendirilmesi. Yayınlanmamış tıpta uzmanlık tezi. Bursa Uludağ Üniversitesi Tıp Fakültesi.