Optimal Frequency to Screen Celiac Disease amongst Patients with Type 1 Diabetes Mellitus: A Multicenter Study.

Aims: Celiac disease (CD) is frequent amongst patients with type 1 diabetes mellitus (T1DM). Since there is a disagreement on the optimal interval and frequency to perform screening tests for CD among diabetic patients, this study aimed to evaluate these issues amongst patients with T1DM.

Methods: This retrospective cohort study was conducted in seven referral diabetic centers in different cities of Iran from January 2020 to January 2021.

Genotyping of , and in Iranian Infants with Congenital Hyperinsulinism.

Background: Congenital hyperinsulinism (CHI) is a heterogeneous disease with various underlying genetic causes. Among different genes considered effective in the development of CHI, , and genes are among the important genes, especially in a population with a considerable rate of consanguineous marriage. Mutational analysis of these genes guides clinicians to better treatment and prediction of prognosis for this rare disease.

Pulmonary and cutaneous mucormycosis in two children with diabetes mellitus type 1.

Objectives: Mucormycosis is a life-threatening condition that can be present in diabetes mellitus. Although the rhino-orbito-cerebral form is the most common, other types may be developed as well.

Case Presentation: The present study reports two children with diabetes who had the cutaneous and pulmonary forms of mucormycosis.

Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.

Purpose: Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. The clinical phenotype of APS-1 varies depending upon mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22.

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Objectives: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the brain, lungs, spleen, and liver. SPMD1-associated disease includes classic infantile and visceral NPD type A and B respectively. Type C NPD is subacute or juvenile.

Novel DNA variation of GPR54 gene in familial central precocious puberty.

Background: Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-coupled receptor-54, is as an essential gatekeeper and regulator of GnRH neurons, and a key factor in initiation of puberty. Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively.

Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study.

Disorders of sex development (DSD) are congenital conditions in which the typical genetic and hormonal profiles are affected and thereby the usual process of sexual differentiation. Most of these studies, however, have been conducted in Western countries. In the present study, preschool sex-typed activities of Iranian individuals with DSD and their age-matched non-affected male and female relatives were assessed using the Pre-School Activities Inventory (PSAI) modified for retrospective self-report.

Peripheral Neuropathy in Children and Adolescents with Insulin-dependent Diabetes Mellitus.

Objective: Type 1 diabetes mellitus (T1DM) is a chronic immune-mediated disease. Diabetic peripheral neuropathy (DPN) is an important microvascular complication of T1DM. One of the most important risk factors for the development of DPN is poor glycemic control.

Evaluating of Psychiatric Behavior in Obese Children and Adolescents.

Objective: Obesity is a medical condition that may have a harmful effect on health, leading to increased illness and reduced life expectancy.  evaluate the relationship of psychiatry disorders in overweight and obese children and adolescents.

Materials & Methods: In this case-control study, 160 children and adolescent were enrolled refereed to Clinic of Pediatric Endocrinology, Imam Reza hospital, Mashhad, Iran in 2009-2011.

The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.

Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants.

Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia.

Objective: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female.

Methods: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents.

Psychosexual Outcome Among Iranian Individuals With 5α-Reductase Deficiency Type 2 and Its Relationship With Parental Sexism.

Introduction: Few studies exist on the psychosexual outcome of homogeneous groups of individuals with 5α-reductase deficiency type 2 (5α-RD-2) and the relation between gender changes and parental hostile and benevolent sexism, which are two components of ambivalent sexism that assume a stereotypical approach toward women in an overtly negative way or a chivalrous, seemingly positive way.

Aim: To report on the psychosexual outcome of individuals with 5α-RD-2 and to investigate its relation to the level of parental sexism in a relatively large sample of Iranians with 5α-RD-2.

Methods: Twenty participants (mean age = 19.

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Aims: Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1.

Delayed Diagnosis of Hypothyroidism in Children: Report of 3 Cases.

Introduction: Hypothyroidism is the most common endocrine disorder in children and presented with various sign and symptoms; its diagnosis needs a high index of suspicion.

Case Presentation: We report 3 cases with unusual presentations of hypothyroidism and with delay in diagnosis that referred to Pediatric Endocrine Outpatient Clinic in Mashhad University of Medical Sciences, Mashhad, Iran with different clinical manifestations. They had decreased Thyroxin (T4) and increased thyroid stimulating hormone (TSH) levels.

Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report.

Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified.

Acute suppurative thyroiditis with thyroid abscess: a case report and review of the literature.

Introduction: Thyroid gland is well known to resist infections by rich blood supply and lymphatic drainage, high glandular content of iodine which can be bactericidal and separation of the gland from other structures of neck. Primary thyroid abscess resulting from acute suppurative thyroiditis (AST) is an unusual type of head and neck infection and it is a rare condition in children so that progression to abscess formation is even more uncommon.

Case Report: In this article we report a 9 years old girl who presented with thyroid abscess.

Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.

Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Three pediatric patients from a large consanguineous Iranian family with hyperglycemia, anemia, and hearing loss were clinically diagnosed with TRMA.

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.

Objective: Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders frequently caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). We describe three novel CYP21A2 mutations in CAH patients.

Design And Methods: Sequence analysis of the entire CYP21A2 gene followed by molecular modelling was performed in three unrelated classical CAH patients of northeastern Iranian origin.

Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.

Objectives: A rapid and convenient approach for the detection of the most common CYP21 gene mutations in patients with congenital adrenal hyperplasia (CAH) with classical forms of 21-hydroxylase deficiency was used. In addition, a new semiquantitative strategy for the detection of del8-bp was designed. These procedures were used for prenatal diagnosis and genotype-phenotype correlation in northeastern Iran.