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A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation

Ünal, Edip; Yıldırım, Ruken; Taş, Funda Feryal; Tekin, Suat; Şen, Aşkın; Haspolat, Yusuf Kenan (Springer, 2018)

Congenital isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rarely seen disease characterized by low serum ACTH and cortisol levels accompanied by normal levels of the other anterior pituitary hormones. ...

A novel mutation of AMHR2 in two siblings with persistent müllerian duct syndrome

Ünal, Edip; Yıldırım, Ruken; Tekin, Suat; Demir, Vasfiye; Onay, Hüseyin; Haspolat, Yusuf Kenan (Galenos Yayınevi, 2018)

Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype ...