Konjenital Hipotiroidi Tanısıyla Takip Edilen Hastaların Klinik ve Laboratuvar Özellikleri

Yıl 2019, Cilt: 17 Sayı: 3, 412 - 423, 02.12.2019

Sercan Yücel Yanmaz Edip Ünal Funda Feryal Taş Ruken Yıldırım Yusuf Kenan Haspolat

Öz

GİRİŞ: Konjenital hipotiroidi (KH)
günümüzde hala çocuklarda önlenebilir mental retardasyonun en sık
sebeplerindendir. Bu çalışmada kalıcı ve geçici konjenital hipotiroidili
vakaların etyolojileri, laboratuvar bulguları, tedavi dozları ve süreleri
karşılaştırılmıştır.

 

GEREÇ ve YÖNTEM: Konjenital hipotiroidi tanısı
ile en az 3 yıl takip edilen 106 hasta (42 kız, 64 erkek) çalışmaya alındı.
Hastaların dosyaları retrospektrif olarak tarandı. Tanı anında, tedavinin
birinci, ikinci ve üçüncü yılında ve tedavi kesildikten 4-6 hafta sonra bakılan
TSH, FT4, FT3, boy SDS, kilo SDS ve tedavi dozları not edildi.

 

BULGULAR: Hastaların %41.5’inde kalıcı KH,
%58.5’inde ise geçici KH saptandı. Kalıcı hipotiroidilerin en sık sebebi tiroid
disgenezileri (%34) iken, geçici KH’li hastalarda en sık sebep
dishormonogenezis (%38,7) idi. En sık saptanan semptomlar uzamış sarılık ve
kabızlıktı. Hastaların büyük çoğunluğunu tarama testi sonucuyla polikliniğe
yönlendirilen (%27.4) ve tarama testi sonucunu beklemeden rutin muayene amaçlı
polikliniğimize başvuran (%27.4) hastalar oluşturmaktaydı. Gruplar arasında
tanı esnasındaki serum TSH, sT4 ve sT3 seviyeleri açısından anlamlı fark yoktu
(sırası ile p=0.955, p=0.532, p=0.23). Geçici KH grubunda tiroglobulin düzeyi
anlamlı olarak yüksekti (p=0.026). Takiplerde kalıcı KH’li hastaların FT3
düzeyleri anlamlı ölçüde daha düşük idi. (sırasıyla p=0.003, p=0.017, p=0.032).

 

SONUÇ: Çalışmamızda geçici KH oranının daha yüksek
olduğu ve geçiçi KH’lilerin büyük çoğunluğunun dishormonogenezise bağlı olduğu
görülmüştür. Tanı anındaki tiroid hormonu seviyelerinin kalıcı ve geçici KH
ayırımında belirleyici olmadığı gösterilmiştir. Ancak takiplerde ihtiyaç
duyulan ilaç dozunun ve TSH düzeyinin yüksek olması ve FT3 seviyesinin düşük
seyretmesi kalıcı KH’yi ayırt etmede kullanılabileceği sonucuna varılmıştır. 

Anahtar Kelimeler

Konjenital hipotiroidi, geçici hipotiroidi

Clinical and Laboratory Characteristics of Patients with Congenital Hypothyroidism

Öz

INTRODUCTION: Congenital hypothyroidism (CH)
is still the most common cause of mental retardation. ln this study, etiology,
laboratory findings,  treatment
doses,  durations of permanent and transient
CH cases were compared.

 

METHODS: 106 patients (42 female, 64
male) who had been treated for CH for at least 3 years were included. Patients’
files were retrospectively scanned. TSH, FT4, FT3, height, weight and treatment
doses,  findings at the first time of
diagnosis, first, second, and third year of treatment and 4-6 weeks after the
treatment was ended, were noted.

 

RESULTS: Permanent CH  was found in 41.5% of patients and transient
CH was found in 58.5% of patients. The most common cause of permanent
hypothyroidism was thyroid dysgenesis (34%). dyshormonogenesis (38.7%) was the
most frequent cause in patients with transient CH.  The most common symptoms were
hyperbilirubunemia and constipation. 27 % of the patients were referred to the
outcome screening program and 27% of the patients were  visited for routine control. Serum TSH, FT4
and FT3 levels at diagnosis were not significantly different between the groups
(p = 0.955, p = 0.532, p = 0.23). The level of thyroglobulin was significantly
higher in the transient CH group (p =0,026). FT3 levels of patients with
permanent CH were significantly lower during follow-up.( p= 0.003, p = 0.017, p
= 0.032).

 

CONCLUSION: 
In our study, it is found that the ratio of transient CH is higher and
most of the  transient cases were
attributed to dyshormonogenesis. It is shown that the thyroid hormone levels at
the time of diagnosis is not significantly different in the differential
diagnosis of permanent and transient CH. 
However, it is concluded that the need for higher dose in the treatment  during follow up and the higher TSH levels,
and the lower fT3 levels can be used in diagnosis of permanent CH.

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