A case of adrenal insufficiency during multisystem inflammatory syndrome in children.

Multisystem inflammatory syndrome in children (MIS-C) is a disease related to coronavirus disease 2019 (COVID-19). Although the effects of COVID-19 on many systems are known, there is limited data regarding its effects on the endocrine system. This study aimed to discuss the effect of COVID-19 on cortisol dynamics in a patient who developed adrenal insufficiency after COVID-19 infection.

Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre.

Background: Hypogonadism is a key feature of Prader-Willi syndrome (PWS) but clear strategies for hormone replacement are lacking.

Objective: To evaluate gonadal status and outcome in patients attending a Scottish PWS clinic from 1991-2019.

Methods: In 93 (35F:56M) patients, median follow-up 11.

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants.

Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes.

Methods: Retrospective, descriptive study.

Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus.

Background/aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing.

Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years.

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants.

Objective: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting (SW) form and in reducing mortality. In this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy.

Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life.

Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition.

Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire.

Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

Unlabelled: Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013.

Educational Needs of Adolescents Regarding Normal Puberty and Menstrual Patterns.

Objective: The study aimed to determine the level of knowledge and the sources of information about normal puberty and menstrual patterns in Turkish schoolgirls from İstanbul.

Methods: The study sample was comprised of 922 randomly chosen schoolgirls. A questionnaire survey of knowledge of normal pubertal development and menstrual patterns was conducted.

McCune Albright syndrome in association with excessive GH secretion: case report.

McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is observed in 21% of the patients. Clinical signs may be missed in these patients because of precocious puberty and craniofacial fibrous dysplasia.

Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?

IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period.

Can HbA1c and one-hour glucose concentration in standard OGTT be used for evaluation of glucose homeostasis in childhood?

Objective: To investigate whether glycosylated hemoglobin (HbA1c) and 1-hour glucose level in oral glucose tolerance test (OGTT) are useful parameters for evaluation of glucose homeostasis in childhood.

Methods: The medical records of 106 obese/overweight children aged from 7 to 18 years who underwent OGTT were evaluated retrospectively. The subjects were divided into 2 groups according to their one-hour glucose concentration.

Congenital hypothyroidism screening program in Turkey: a local evaluation.

It was aimed to evaluate the national congenital hypothyroidism program in terms of thyroid-stimulating hormone (TSH) cut-off level, frequency of cases that required treatment and the stages before treatment in the Kocaeli district area. This research was performed with the contribution of Kocaeli University Medical Faculty, Pediatric Endocrinology Department, and the Kocaeli Local Health District. 25,188 babies born in 2009 were evaluated.

No relationship between vitamin D status and insulin resistance in a group of high school students.

Objective: To investigate the effects of vitamin D deficiency on both insulin resistance and risk of metabolic syndrome in children.

Methods: The study group consisted of 301 children and adolescents with a mean age of 14.2 ± 1.

Vitamin D deficiency in children and adolescents with type 1 diabetes.

Objective: To investigate the frequency and effects of vitamin D deficiency in children with type 1 diabetes (T1D) in a region which is known to have a high rate of vitamin D deficiency among adolescents.

Methods: In this prospective cross-sectional study, 120 children and adolescents with T1D (55 girls and 65 boys) aged 3-20 years were evaluated. Serum 25-hydroxyvitamin D [25(OH)D], parathormone (PTH), and alkaline phosphatase (ALP) levels were measured.

Spondyloenchondrodysplasia: a rare cause of short stature.

Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in the long bones and platyspondyly.

Nutritional status of students in Kocaeli, Turkey: a population-based study.

Background:   The aim of this study was to determine the nutritional status of students in Kocaeli, Turkey.

Methods:   This cross-sectional study was carried out among the students of secondary schools in Kocaeli. Of the students, 2491 subjects were selected using multi-stage stratified sampling.

Prevalence of metabolic syndrome in schoolchildren and adolescents in Turkey: a population-based study.

Aim: To determine prevalence of the metabolic syndrome (MS) in the pediatric population.

Methods: We studied 2,491 schoolchildren randomly selected aged 10-19 years using a multistage, stratified sampling design. Obese and overweight participants were called for further investigation (n = 456).

Audit of microalbumin excretion in children with type I diabetes.

Objective: To investigate prevalence, persistence and clinical correlates of increased microalbumin excretion in random urine samples collected in a paediatric diabetes clinic.

Method: Random urine samples were collected annually in patients >10 years attending the diabetes clinic in the Royal Hospital for Sick Children, Edinburgh. Albumin excretion is expressed as albumin:creatinine ratio (ACR) and classified as normal (10 mg/mmol), or macroalbuminuria (>47 mg/mmol in females, >35 mg/mmol in males).

Hypovitaminosis D in obese and overweight schoolchildren.

Aim: To determine the prevalence of vitamin D hypovitaminosis among obese and overweight schoolchildren.

Design: A cross-sectional population based sample.

Methods: In a cross-sectional study, 301 students (177 girls and 124 boys) aged 11-19 years were selected by multistage stratified sampling design.