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.

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Aims/hypothesis: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing.

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.

An endoscopic endonasal approach to craniopharyngioma via the infrachiasmatic corridor: a single center experience of 84 patients.

Object: The infrachiasmatic corridor is the most important surgical access route for craniopharyngiomas and was identified and used in clinical series. The aims of this study were to describe the characteristics that assist dissection and resection rates in endoscopic surgery of solid, cystic, and recurrent cases and their importance in the infrachiasmatic corridor in endoscopic surgery.

Methods: One hundred operations on 84 patients with pathologically identified craniopharyngioma were included in the study.

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.

Evaluation of nutritional status in children with amblyopia.

Purpose: We aimed to compare the body mass index and vitamin and mineral status of children with and without amblyopia.

Methods: Amblyopic children aged between 5 and 18 years (n=46) and age-matched control children (n=32) were evaluated in terms of anthropometric parameters, including height, weight, body mass index and demographic features. Serum vitamin B12 and folate were measured using an Advia Centaur XP (Siemens, Ireland) biochemistry analyzer.

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.

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey.

Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015.

Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated.

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.

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients.

Study Objective: To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies.

Design: Retrospective study.

Setting: Eight pediatric endocrinology clinics, Turkey.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study.

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.

Turner syndrome and associated problems in Turkish children: a multicenter study.

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.

Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.

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.

Evaluation of vitamin D supplementation doses during pregnancy in a population at high risk for deficiency.

Aim/background: Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study.

Methods: The study group consisted of 91 pregnant women aged 16-42 years admitted to Kocaeli Maternity and Children Hospital between April 2011 and April 2012.

Does common channel length affect surgical choice in female congenital adrenal hyperplasia patients?

Objective: Partial/total urogenital sinus mobilization (UGSM) is one of the recommended techniques for treatment of female congenital adrenal hyperplasia (CAH). In this study we compared the length of common channel (CC) and type of operation performed in CAH patients.

Patients And Methods: We retrospectively analyzed data of patients receiving surgery for female CAH.

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.

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy.

Posttraumatic stress symptoms in children diagnosed with type 1 diabetes.

Background: Studies consistently found remarkable rates of posttraumatic stress symptoms (PTSS) in children with chronic diseases. But, only one study had searched PTSS in children with diabetes, until now. So, the present study aimed to examine incidence rate and predictors of PTSS in children with type 1 diabetes.

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.