Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

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.

Examination of quality of life and psychiatric symptoms in childhood Graves' disease.

Objectives: The aim of our study is to examine the emotional, behavioral problems, and psychiatric symptoms of children diagnosed with Graves' disease (GD), to assess their quality of life, and to compare with control group.

Methods: The research was planned as a cross-sectional study and included 16 patients with GD (13 female and three male) and 29 healthy children for control group (19 female and 10 male). Sociodemographic form, Pediatric Quality of Life Inventory, Revised Child Anxiety and Depression Scale-Child Version (RCADS-CV), Strengths and Difficulties Questionnaire (SDQ), Turgay DSM-IV-Based Child and Adolescent Behavior Disorders Screening and Rating Scale (T-DSM-IV-S), and Affective Reactivity Index scale were applied to the children and their families.

Does an episode of diabetic ketoacidosis affect thyroid function tests in pediatric patients?

Objectives: The aim of our study was to investigate the changes in thyroid hormone levels during and after acute metabolic disorder in patients with diabetic ketoacidosis (DKA).

Methods: Eighty five patients diagnosed with DKA were included in the study. Patients with control thyroid function test (TFT) values at admission (the first blood sample) and 1 month later were included in the study.

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 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.

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.

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.