Identification of a novel homozygous variant in a patient with a 46,XY disorders of sex development.

Objectives: Nuclear receptor subfamily 5 group A member 1 () is a transcription factor critical for the development of various organs. Pathogenic variants in are associated with a spectrum of disorders of sex development (DSD).

Case Presentation: A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia.

Evaluation of Serum Advanced Glycation End Product Levels and Microvascular Complications in Children and Adolescents with Type 1 Diabetes Mellitus.

Objective: Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was to assess the relationship between AGEs and the microvascular complications of children and adolescents with type 1 diabetes mellitus (T1DM).

Materials And Methods: Twenty-six T1DM patients with microvascular complications and 58 complication-naive patients who were similar regarding age, sex, and pubertal status enrolled in the study.

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.

Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH.

Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in and .

Objectives: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90-95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-β-hydroxysteroid dehydrogenase deficiency, 11-β-hydroxylase deficiency (11β-OHD) (%5-8), 17-α-hydroxylase deficiency (17α-OHD), and steroidogenic acute regulatory protein () defects (congenital lipoid adrenal hyperplasia) with mutations in , and , respectively.

A Null Mutation of Causes Dysosteosclerosis, Not Osteopetrosis.

Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS is inherited in an autosomal recessive manner and is genetically and clinically heterogeneous. To date, four individuals with DOS who have five different mutations have been reported.

Screening of non-syndromic early-onset child and adolescent obese patients in terms of and gene variants by next-generation sequencing.

Objectives: Non-syndromic monogenic obesity is a rare cause of early-onset severe obesity in the childhood period. The aim of this study was to screen four obesity related genes ( and ) in children and adolescents who had severe, non-syndromic early onset obesity.

Methods: Next-generation sequencing of all exons in and was performed in 154 children and adolescents with early onset severe obesity obesity.

Trend in initial presenting features of type 1 diabetes mellitus over a 24 year period in Turkey: a retrospective analysis of 814 cases.

Background: The study aim was to examine changes in trends of presenting features during the diagnosis of patients followed up with newly diagnosed Type 1 diabetes mellitus (T1DM) over the past 24 years.

Methods: The study was retrospective. Patients with a diagnosis of T1D between the years of 1996-2019 were included.

How Vitamin D Levels of Children Changed During COVID-19 Pandemic: A Comparison of Pre-pandemic and Pandemic Periods.

Objective: The synthesis of vitamin D is related to sun exposure, thus the restrictions during the Coronavirus disease-2019 (COVID-19) pandemic may have affected the levels of vitamin D in all age groups. The aim of this study was to evaluate vitamin D levels of healthy children and adolescents during the first year of the pandemic.

Methods: The study group included healthy children and adolescents who were admitted for general check-ups and evaluated with 25(OH)D levels.

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

Background: Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data are scarce regarding clinical and biochemical outcomes of the disease in the follow-up.

Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after discontinuation of treatment.

A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in in a patient with hypomagnesemia with secondary hypocalcemia.

Objectives: Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the . Most of the identified variants in lead to premature termination: nonsense, frameshift, deletion, and splice site mutations.

Case Presentation: Herein, we report a 1.

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.

Investigating the Efficiency of Vitamin D Administration with Buccal Spray in the Treatment of Vitamin D Deficiency in Children and Adolescents.

Objective: The aim of this study was to evaluate the efficiency of a buccal spray form of vitamin D compared to single oral dose (stoss therapy) and oral drops therapy in the treatment of vitamin D deficiency.

Methods: Ninety healthy children and adolescents (3-18 years) with vitamin D deficiency [serum level of 25-hydroxyvitamin D (25(OH) D) <12 ng/mL] were randomized to receive vitamin D3 buccal spray (2000 U, n=30, group 1) for six weeks, oral drops (2000 U, n=30, group 2) for six weeks and a single oral dose (300 000 U) vitamin D3 (n=30, group 3). Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone and 25(OH)D levels of the patients were measured at baseline and after the treatment on the 42 day.

The effect of ketogenic diet on thyroid functions in children with drug-resistant epilepsy.

Background: Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown.

Identification of two gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant.

Introduction: Persistent müllerian duct syndrome (PMDS) is a rare form of 46, XY disorder of sex development characterized by the persistence of the müllerian structures (uterus, fallopian tubes, the upper part of the vagina) in phenotypically and genotypically normal males. This disease occurs as a result of impairment in the synthesis, release or effect of anti-Müllerian hormone (AMH) during the embryonic period. Approximately 85-88% of PMDS cases have been reported to have or mutation.

Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel Loss-of-Function Mutation.

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or the action of GnRH on the pituitary gonadotrophes. is one of the genes which, when mutated, cause IHH and mutations of this gene are responsible for about 2-5% of patients with normosmic IHH (NIHH). In this report, we present three siblings with NIHH due to a compound heterozygous mutation.

Long-term monitoring of Graves’ disease in children and adolescents: a single-center experience.

Background/aim: Graves’ disease (GD) is more severe, requires a more complex treatment, and has a lower probability of achieving remission in children than in adults. There is no consensus on the appropriate duration of antithyroid drug (ATD) treatment. Surgical or radioactive iodine (RAI) treatments are not definitive and generally result in permanent hypothyroidism.

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation.

Metabolic control and periodontal treatment decreases elevated oxidative stress in the early phases of type 1 diabetes onset.

Objective: Recently, increasing concern has been focused on the contribution of oxidative stress in the pathology of periodontal disease and diabetes mellitus. Firstly, the present study aimed to analyze gingival crevicular fluid (GCF), salivary, and serum oxidative status in children with type 1 diabetes mellitus (T1DM) at diagnosis and systemically healthy children with and without gingivitis. Additionally, the diabetic patients were reevaluated after diabetes and periodontal treatment.

Retinal Ganglion Cell Loss in Children With Type 1 Diabetes Mellitus Without Diabetic Retinopathy.

Background And Objective: Early diabetic retinal changes in children with type 1 diabetes mellitus (T1DM) without diabetic retinopathy (DR) were examined using spectral-domain optical coherence tomography (SD-OCT).

Patients And Methods: Sixty children with T1DM without DR and 60 normal children were enrolled in the study. SD-OCT was used to measure the ganglion cell-inner plexiform layer (GC-IPL) and retinal nerve fiber (RNFL) thicknesses in all participants.

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.

Case Presentation: We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day).

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents.

Objective: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity. Data regarding MC4R mutations in Turkish subjects are limited. To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.

Higher-Than-Conventional Subcutaneous Regular Insulin Doses Following Diabetic Ketoacidosis in Children and Adolescents.

Objective: To evaluate the effect of initial insulin dosage on glycemic control in the first 48 hours of subcutaneous regular insulin therapy after resolution of diabetic ketoacidosis (DKA).

Methods: Records of patients with DKA hospitalized in the past 3 years [n=76, median age=10.0 (6.

The assessment of peripapillary retinal nerve fiber layer and macular ganglion cell layer changes in obese children: a cross-sectional study using optical coherence tomography.

Purpose: To investigate the relationship between the obesity and optical coherence tomography (OCT) parameters.

Methods: We studied 54 obese and 33 non-obese children and adolescents. Obesity was defined as BMI higher than 95th percentile (BMI SDS > 1.