Molecular Diagnosis of Monogenic Diabetes and Their Clinical/Laboratory Features in Turkish Children.

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey.

Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study.

Correction to: The Gonadotropin-Releasing Hormone Analogue Therapy May Not Impact Final Height in Precocious Puberty of Girls With Onset of Puberty Aged 6 - 8 Years.

[This corrects the article DOI: 10.14740/jocmr3710.].

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the Gene.

Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the gene can lead to disorders of sex development.

A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.

Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis.

The Gonadotropin-Releasing Hormone Analogue Therapy May Not Impact Final Height in Precocious Puberty of Girls With Onset of Puberty Aged 6 - 8 Years.

Background: The effect on final height of gonadotropin-releasing hormone analogues (GnRHa) used in the treatment of precocious puberty is controversial. The aim of this study was to determine whether or not GnRHa therapy would make any contribution to final height in precocious puberty of girls with onset of pubertal characteristic development aged 6 - 8 years.

Methods: Age at start of puberty, target height standard deviation score (SDS) presentation, follow-up height SDS, body mass index (BMI) SDS, bone age and predicted adult height of 34 female subjects who had reached their final height and with pubertal findings beginning at the ages of 6 - 8 were evaluated.

Effectiveness of Continuous Subcutaneous Insulin Infusion Pump Therapy During Five Years of Treatment on Metabolic Control in Children and Adolescents with Type 1 Diabetes Mellitus.

Objective: To compare continuous subcutaneous insulin infusion (CSII) therapy with multiple daily insulin (MDI) therapy on metabolic control in children and adolescents with type 1 diabetes mellitus (T1DM) over the long term.

Methods: Fifty-two T1DM patients treated with CSII and monitored for at least one year prior to and at least five years following CSII were included. Thirty-eight age and sex-matched MDI controls with a 5-year follow up were recruited.

Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.

Background: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed.

Methods: This multicenter, nationwide web-based study collected data.

Results: The mean age was 9.

Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.

Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable.

Is anti-Mullerian hormone an indicator of potential polycystic ovary syndrome in prepubertal girls with simple obesity?

The aim of this anti-Mullerian hormone (AMH) levels in prepubertal obese girls are a predictive marker for polycystic ovary syndrome (PCOS) and to investigate the relationship between insulin resistance and AMH. Sixty girls with premature pubarche or obesity and 20 healthy controls between the ages of 6-9 were enrolled. Of the patients, 22 (36.

Comparison of echocardiographic findings with laboratory parameters in obese children.

Unlabelled: Aim The purpose of our study was to evaluate the association between insulin resistance and left ventricular size and function in obese children. Material and methods A total of 79 cases aged 10-16 years and diagnosed with obesity and 79 healthy and non-obese cases as controls were included in the study. Patient and control groups were divided into three groups in terms of age as group 1 (10-12 years), group 2 (12-14 years), and group 3 (14-16 years).

[Correlation between Haller index and echocardiographic and spirometric findings in children with pectus excavatum].

Objectives: In this study, we evaluated the correlation between severity of deformity and cardiopulmonary function with regards to echocardiographic and spirometric findings.

Study Design: Twenty-five children, mean age 13.6 years, presenting with pectus excavatum between August 2012 and May 2013, were included.

Psychiatric approaches for disorders of sex development: experience of a multidisciplinary team.

Objective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD.

Methods: The study group consisted of 51 patients diagnosed with DSD.