Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
A rare association of monosomy 18p syndrome and polyglandular autoimmune syndrome type IIIA
Balkan Journal of Medical Genetics · Ocak 2013
YÖKSİS Kayıtları
A RARE ASSOCIATION OF MONOSOMY 18p SYNDROME AND POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE IIIA
BALKAN JOURNAL OF MEDICAL GENETICS · 2013 SCI-Expanded
DOKTOR ÖĞRETİM ÜYESİ AHMET GÖRGEL →
Makale Bilgileri
DergiBalkan Journal of Medical Genetics
Yayın TarihiOcak 2013
Cilt / Sayfa16 · 81-84
Scopus ID2-s2.0-84903633366
Erişim🔓 Açık Erişim
Özet
We report a monosomy 18p syndrome in a male patient with polyglandular autoimmune syndrome (PAS) type IIIA. A 34-year-old mentally retarded diabetic male patient with short stature, wide earlaps, old-looking face, straight nasal bone, atrophic mouth, drooping cheeks, full teeth loss, and soft, weak and sparse white hair was admitted to the outpatient endocrinology clinic. Chromosome analysis of the patient revealed 46,XY,del(18)(p11.2). He was also diagnosed with autoimmune thyroiditis, primary hypothyroidism and diabetes mellitus type 1. We concluded that monosomy 18p syndrome may be associated with autoimmune diseases and if this is suspected, patients should be examined for an endocrine deficiency.
Yazarlar (5)
1
D. Dolek-Cetinkaya
2
Mustafa Demirpençe
3
Ahmet Gorgel
4
Fusun Salgur
5
Mitat Bahçeci
Anahtar Kelimeler
Growth hormone deficiency
Hypogo-nadotropic hypogonadism
Monosomy 18p
Type 1 diabetes and hypothyroidism
Kurumlar
Ataturk Training and Research Hospital
Izmir Turkey
Metrikler
1
Atıf
5
Yazar
4
Anahtar Kelime