Objective: The aim of this study was to evaluate cases referred from the congenital hypothyroidism (CH) newborn screening program.
Methods: Infants referred to Pediatric Endocrinology between 30.09.2015 - 01.04.2018 beca...
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 phen...
Objective: Vitamin D deficiency is a serious health problem despite a general improvement in socio-economic status in Turkey. The aim of this study was to evaluate maternal vitamin D status and its effect on neonatal vit...
Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in...
Objective:
Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess t...
Cases Referred from the Turkish National Screening Program: Frequency of Congenital Hypothyroidism and Etiological Distribution
Objective: The aim of this study was to evaluate cases referred from the congenital hypothyroidism (CH) newborn screening program. Methods: Infants referred to Pediatric Endocrinology between 30.09.2015 - 01.04.2018 beca...
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome
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 phen...
Vitamin D Deficiency in Pregnant Women and Their Infants
Objective: Vitamin D deficiency is a serious health problem despite a general improvement in socio-economic status in Turkey. The aim of this study was to evaluate maternal vitamin D status and its effect on neonatal vit...
A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus
Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in...
Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings
Objective: Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess t...