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Introduction
Publications
Publications (191)
Aim: Eating behaviors affect young children with type 1 diabetes mellitus (T1DM). The aim is to identify eating behaviors, and nutritional status in young children with T1DM and healthy peers and evaluate the effect of eating behaviors on glycemic control in children with T1DM. Material and Methods: The study was a single-center controlled cross-se...
Introduction:
Craniopharyngiomas (CPG) have complex challenges in treatment due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. This study aims to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a natio...
Purpose
We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH.
Methods
This retrospective observational multicent...
MIRAGE syndrome is a rare multisystemic disorder characterized by various manifestations, such as myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. In the literature, there have been rare cases of dysautonomia. We present a 6.5-year-old girl, who was first admitted to our depar...
Objective
This study aimed to investigate the quality of life of patients with central precocious puberty (CPP) who required treatment and premature thelarche (PT) followed up without treatment and to compare the groups with and without treatment among themselves and with healthy children.
Design, Patients and Measurement
This study is designed as...
Objective
Children with home invasive mechanical ventilation (HIMV) face numerous difficulties, including endocrine problems that can arise as a consequence of their condition. Endocrine problems seen in children treated with HIMV may develop due to the underlying disease, drugs used, or prolonged mechanical ventilation.
Method
This manuscript wil...
Here we report an adolescent boy diagnosed with ectopic ACTH (Adrenocorticotropin hormone) syndrome (EAS) caused by atypical bronchial carcinoid. The patient was evaluated multidisciplinaryly: he had surgery and took chemotherapy and radiotherapy treatments afterward. The patient is still under our follow-up. Until today eighteen pediatric and adol...
Hereditary forms of Medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of RET activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we aim to present the differ...
Background:
Diabetic ketoacidosis (DKA) is a common endocrine emergency in pediatric patients. Early presentation to health facilities, diagnosis, and good management in the pediatric intensive care unit (PICU) are crucial for better outcomes in children with DKA.
Methods:
This was a single-center, retrospective cohort study conducted between Fe...
Inherited forms of medullary thyroid carcinoma (MTC) can cause serious problems in diagnosis and follow-up. Family screening is performed, and prophylactic thyroidectomy at an appropriate age can be life-saving. This study aimed to investigate the diagnostic, clinical, laboratory characteristics, and treatment methods of cases with rearranged durin...
Children with home invasive mechanical ventilation face numerous difficulties, including endocrine problems that can arise as a consequence of their condition. Endocrine problems seen in children treated with HIMV may develop due to the underlying disease, drugs used, or prolonged mechanical ventilation. This manuscript will discuss the most common...
Rickets is a childhood disorder of decreased mineralization of bone tissue. It is either calciopenic or phosphopenic, according to the deficient mineral. Calcium, phosphate, and vitamin D metabolism should be known to understand the pathophysiology of rickets. A deficiency of calcium or vitamin D can be caused by several conditions. These condition...
Objective:
In patients with classical congenital adrenal hyperplasia (CAH), virilization affects the brain and external genitalia due to antenatal androgen exposure. There are few studies on how the effects of androgens on brain virilization are reflected in behavior. However, there is no study focused on the adolescence period. The aim of this st...
Objective:
Primary osteoporosis is a rare and essential problem in childhood that can cause severe skeletal deformities. We aimed to reveal the spectrum of primary osteoporosis and assess the effectiveness and safety of bisphosphonates in increasing bone mineral density and reducing fractures.
Materials and methods:
Patients with primary osteopo...
Objective:
Abnormal uterine bleeding (AUB) is adolescent girls' most common gynecologic complaint. This study aimed to determine the diagnostic and management differences between those with/without heavy menstrual bleeding.
Methods:
We collected retrospective data such as follow-up, final control, and treatment regimen of adolescents aged 10-19...
Objective:
Parathyroid adenoma is less common than in adulthood, but its morbidity is higher in children. We aimed to evaluate the clinical characteristics of parathyroid adenoma and our clinical experience since the early disease is often asymptomatic and late diagnosed.
Materials and methods:
From 2010 to 2020, all children diagnosed with para...
Dyshormonogenesis is the failure of thyroid hormone production due to a defect in thyroid hormonogenesis. Loss-of-function mutations in the thyroglobulin(TG) gene are a cause of dyshormonogenesis, leading to gland stimulation by thyroid-stimulating hormone (TSH), resulting in goiter. We report a mitotically active follicular nodule in an 11-year-ol...
Background:
Hyperprolactinaemia refers to increased circulating prolactin and is divided into functional and pathological hyperprolactinaemia. Prolactinoma is the most common cause of severe hyperprolactinaemia. Prolactinomas are rare in children. Treatment outcomes and long-term follow-up data in children are insufficient. Dopamine agonists are t...
Introduction:
The harmful or beneficial effect of obesity on bone mineral density (BMD) remains controversial in children and adolescence. Fibroblast growth factor 21 (FGF21) is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipid metabolism. However, the role of FGF-21 in bone metabolism seems paradoxical and...
Introduction:
Cardiac involvement is common in Noonan Syndrome (NS). Concerns have been raised regarding the effect of recombinant growth hormone (rGH) use on ventricular wall thickness and a possible increased risk of cardiac side effects. This study aimed to show the effect of rGH on the development of hypertrophic cardiomyopathy and other cardi...
Objectives:
Central diabetes insipidus (CDI) is a rare but important disease of varying etiology that poses challenges in diagnosis and follow-up. Identifying diagnostic difficulties in patients with CDI will help ensure an optimal approach to their management and follow-up. This study aimed to characterize the clinical and etiological characteris...
Background:
Type 1 pseudohypoaldosteronism (PHA1) is a rare condition characterized by the resistance of the kidney to the effect of aldosterone. Secondary PHA1 is a syndrome that is most often related to urinary tract anomalies (UTAs) and/or urinary tract infections (UTIs). A similar pattern of electrolyte impairment is seen in congenital adrenal...
The current study aimed to establish validity and reliability of the Newest Vital Sign (NVS) in 255 Turkish adolescents aged 11 to 18 years with and without type 1 diabetes and evaluate their health literacy with age, gender, and health status. The t values of items in the NVS were found to be statistically significant and the calculated Cronbach's...
Background/aim:
There have been no studies to date examining the effect of metformin treatment on vitamin B12 status in children and adolescents. In this prospective study, the effects of metformin on blood vitamin B12, serum methylmalonic acid (MMA), homocysteine and holo-transcobalamin-II (holo-TC-II) levels were assessed in pediatric age group....
We aimed to determine the prevalence of early puberty in girls with premature pubarche and analyze the time interval between their pubarche and succeeding thelarche. This study included 60 female children with premature pubarche. We retrospectively collected clinical, laboratory, and radiological findings from all participants. We investigated the...
Introduction
Diabulimia is known as an eating disorder specific to individuals with diabetes.
Objectives
In this study, it was aimed to determine the diabulimia risk and to evaluate the possible relationships between diabulimia risk and diet quality, anthropometric measurements, and biochemical parameters of adolescents with type 1 diabetes.
Mate...
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 ra...
The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including microcephaly was admitted. She was diagnosed with...
Introduction:
Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study is to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood.
Method:
Patients aged 0-18, who were molecul...
Sotos syndrome is characterized by overgrowth, distinctive facial appearance, and learning disability. It is caused by heterozygous mutations, including deletions of NSD1 located at chromosome 5q35. While advanced bone age can occur in some cases, precocious puberty (PP) is reported only in three cases until now. Here, we reported a case of Sotos s...
Objective:
To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey.
Methods:
The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laborat...
Objective
Precocious puberty (PP) is one of the most common endocrine disorders in school-age girls. It has been reported that there is an increased tendency for psychiatric disorders for early maturing girls. The aim of this study was to determine the prevalence of psychiatric problems and to investigate depression and anxiety levels, and self-con...
Objectives:
LMNA variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations.
Study design:
Retrospective cohort study.
Methods:
Clinical data from 122 patients (age ra...
Background
In addition to carbohydrate count, this study aims to investigate the impact of the determination of bolus insulin doses by fat and protein counts on postprandial blood glucose level for adolescents having type 1 diabetes mellitus.Methods
The study was crossover and randomized; and all of participants were given standard breakfast (insul...
Objective:
We aimed to retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia who were raised male.
Methods:
A national database was created. The data of patients were asked to be recorded in the data form.
Results:
The median age of diagnosis was 3 (0.1-18.3) years in 44 patients. Twenty nine cases w...
Objective
Ventricular repolarisation changes may lead to sudden cardiac death in obese individuals. We aimed to investigate the relationship between ventricular repolarisation changes, echocardiographic parameters, anthropometric measures, and metabolic syndrome laboratory parameters in obese children.
Methods
The study involved 81 obese and 82 no...
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome; is a rare but crucial disorder. Sleep-disordered breathing can occur at the beginning or after of obesity. A disease-specific test for diagnosis is not yet available. Neural crest tumors (ganglioneuroma, ganglioneuroblastoma) have been...
Costello syndrome (CS) is a rare member of the group of neuro-cardio-facio-cutaneous diseases known as RASopathies. CS involves characteristic dysmorphic craniofacial features, cardiac defects, and increased cancer susceptibility, depending on the heterozygous activating germline mutations in HRAS. Polyhydramnios and high birth weight are the most...
Congenital hyperinsulinemic hypoglycemia (CHH) is the most common cause of persistant hypoglycemia in the neonatal period. Histologically, CHH is classified in three subgroups as diffuse, focal, and atypical forms. 18F-fluoroDOPA positron emission tomography/computed tomography (PET/CT) is a method with 100% accuracy for detecting the focal lesion....
Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely re...
Malnutrition and growth retardation (GR) are major extraintestinal presentations of inflammatory bowel disease (IBD) in childhood and are especially prevalent among those with Crohn’s disease (CD). We aimed to evaluate nutritional and growth status and body composition (BC) of children with IBD during a 1-year follow-up.
Thirty-eight children with...
Background Pathogenic variants in Lamin A/C (LMNA) gene are the most common monogenic etiology in Familial Partial Lipodystrophy (FPLD) causing FPLD2. LMNA pathogenic variants have been previously associated with cardiomyopathy, familial arrhythmias or conduction system abnormalities independent of lipodystrophy. We aimed to assess cardiac impacts...
“Nonketotic-hypoinsulinemic hypoglycemia (NkHH)” is a very rare problem of glucose consumption increase without hyperinsulinism. This disorder has mainly been reported in cases with AKT2 mutation and rarely in cases with PTEN mutation. In cases with PTEN or AKT2 mutation, no effective therapy has been implemented in addition to frequent feeding to...
Objective:
Standart short ACTH stimulation test (SST) has been used for detecting adrenal gland fuction for several years by intravenous (iv). However iv form has not been accessed easily in some countries like ours. The aim of this study was to evaluate the effectiveness of the intramuscular (im) SST.
Methots:
Patients were underwent SST with s...
Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely re...
Aim:
Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and its treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients.
Results:
From 24 centers, 166 patient...
Objective:We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study.Methods:We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas,...
Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with non‐syndromic IGHD. Functional co...
Objective:There is a growing interest in the relationship between obesity and renal damage. The effect of obesity on renal function in children and adolescents has not been adequately investigated. In addition, there is no complete consensus on the reliability of various renal function parameters. The primary goal of this study was to evaluate rena...
Thyroid functions in the fetus and newborn carry importance in terms of the baby's health and development of the central nervous system. Maternaliodine deficiency, exposure to iodine, thyroid diseases (Hashimoto thyroiditis, Graves') and drugs used by the mother affect thyroid functions in the fetus. Reflections of these effects are observed immedi...
Objective:
We aimed to study the characteristics on admission, diagnosis, treatment, and follow-up of hyperprolactinemic cases in a large multicenter study.
Methods:
We reviewed 233 hyperprolactinemic patients under 18 years of age who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-indu...
Background:
There is growing interest in the relationship between obesity and renal damage. The effect of obesity on renal function in children and adolescents has not been adequately investigated. In addition, there is no complete consensus on the reliability of renal function parameters and which of these accurately estimate true renal function....
Background
Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients.
Objective
To present genotype–phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic...
Hypochondroplasia is a cause of disproportionate short stature and characterized by slight clinical manifestations. The aim of this study was to evaluate the efficacy of long-term GH therapy in hypochondroplastic cases with inadequate response to GH simulation tests . In this study, six patients who had height SDS of -3.43 before the treatment and...
Objectives:
Continuation of GH treatment in adolescents with severe childhood onset Idiopathic Growth Hormone Deficiency (IGHD) during the transition period, irrespective of achievement of final height is still debatable.We aimed to investigate the metabolic profile, BMD and body composition of the patients with isolated childhood onset GHD in who...
Study objective:
Polycystic ovarian syndrome (PCOS) is a common endocrine disorder characterized by hyperandrogenism and chronic anovulation, which affects 5-10% of reproductive age females. Diagnosis of adult patients with PCOS is made easily with clinical and laboratory methods and the antimullerian hormone (AMH) level are accepted as a good ind...
Background:
The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty).
Methods:
Medical reports of GHD patients in whom treatment was initiated between 0...
In the article listed above, Ayla Güven, of the Pediatric Endocrinology Clinic, Göztepe Educational and Research Hospital, Istanbul, Turkey, was erroneously omitted from the author list. Dr. Güven recruited patients, provided clinical information, and contributed to discussion. The authors apologize for this unfortunate omission. The online version...
Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case c...
Introduction:
LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a sin...
Objective:
Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis, which may consist heterogenous symptoms. They are phenotypically classified into 2 groups as complete and partial; while karyotypic description was as 46,XY GD and 45,X/46,XY GD.
Methods:
Thirty ei...
Objective:
The relationship between plasma C-type natriuretic peptide (CNP) concentration and height velocity in children has long been studied, and CNP has been implicated as an emerging new growth marker during childhood. Recent studies reported that besides its well-studied role in growth, plasma CNP levels are reduced in adolescents with overw...
e22018
Background: Prognosis in childhood cancer improved with intensive tx regimens, improved survival,concerns&issues related to QOL become crucial point of interest. Methods: Gonadal functions were studied in 33M,22F survivors of childhood cancers treated w gonadotoxic chemotherapy,with HL,NHL, ALL,Osteosarcoma,Rhabdomyosarcoma. All event-free s...
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabe...
Objective:
This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention.
Methods:
Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of pati...
Background
The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed.
Methods
This multicenter, nationwide web-based study collected data.
Results
The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were prem...
17-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics frequently associated with hypertension and hyperkalemia. Here we report a 46, XY case, who had normal potassium levels and without hypertension. Here we present a 2,5 years ol...
Peutz-Jeghers Syndrome (PJS) is inherited as an autosomal dominant trait which is characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large Cell Calcifying Sertoli Cell Tumor (LCCSCT) is a kind of sex cord-stromal tumor, often bilateral and multifocal, accounting for 0.4 -1...
Triple A syndrome is a rare autosomal recessive disorder characterized by alacrima, adrenocorticotropic hormone resistant adrenal insufficiency and Achalasia. The clinical findings can be heterogeneous. Neurological findings such as autonomic dysfunction may accompany this syndrome, and therefore, it is sometimes called as 4 A syndrome. This report...
Congenital Hyperinsulinism (CHI) is a rare disease and characterized by dysregulated insulin secretion from pancreatic β-cells. Recurrent hypoglycemia can lead to neurological insult and permenant brain injury. Recently, there are important advances in understanding the genetic mechanisms, histological characteristics, imaging and surgical techniqu...
Background:
Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated...
Objective:
Noonan syndrome (NS) is a multisystem disorders and short stature is a most striking manifestation. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registiration sys...
Objective:
It is suggested that Vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationship between Treg cells and vitamin D levels was investigated in pediatric chronic autoimmune thyroiditis (CAT) patients.
Methods:
Thirty-two children with CAT and 24 healthy subjects were studied. FOXP3 expres...
Spondyloocular syndrome is an autosomal recessive disorder with spinal compression fractures, osteoporosis and cataract. Mutations in XYLT2, encoding isoform of xylosyltransferase, were recently identified as the cause of the syndrome. We report on four patients, two unrelated patients and two siblings, with spondyloocular syndrome and novel mutati...
Aim:
The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause GIPP are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this stud...
Acute adrenal crisis is a life-threatening disorder. Cardiovascular complications of the condition are usually limited to hypovolaemic hypotension and shock. An acute reversible cardiomyopathy and heart failure in association with acute adrenal crisis is rarely reported, particularly in children. A 6-year-old girl with adrenal crisis which was comp...
Objective:
We present phenotypic and genotypic data of 38 Turkish patients with ISS and the distinctive features of 1 patient with an SHOX deletion.
Methods:
We used the microsatellite markers (MSMs) DXYS10092 (GA repeats) and DXYS10093 (CT repeats) to select patients for fluorescent in situ hybridisation (FISH) analysis and to screen for deleti...
Objective:
There are only a few studies on the effects of GnRHa treatment on final height in cases with early puberty. We investigated the effects of treatment with GnRHa on final height in girls who experienced early puberty with symptoms beginning at 7-8.5 years of age.
Methods:
We started with 49 cases diagnosed with early puberty where the f...
Objective:
Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some ISS patients may have varying degrees of insulin-like growth factor-1 (IGF-1) deficiency. Recombinant growth hormone (rGH) treatment has been used by some authors with variable resu...
The purpose of this study was to define grayscale and color Doppler sonographic features of an ectopic intrathyroidal thymus and to differentiate it from other thyroid nodule etiologies.
We retrospectively reviewed imaging findings from 30 children who had a diagnosis of an ectopic intrathyroidal thymus from November 2005 to January 2013. Nodular t...
Androgen receptor (AR) gene mutations are the leading cause of 46,XY disorders of sex development (DSD) and are associated with varying degrees of androgen insensitivity. The aim of this study is to investigate AR gene mutations in 46,XY DSD patients with normal testosterone secretion, either normal or high testosterone/dihydrotestosterone (T/DHT)...
Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and detailed clinical progression of the disease is largely unknown with almost 40 patients reported and only a few patients described...
We report a child with hypoinsulinemic hypoglycemia and distinctive facies, with a diagnosis of the previously described MORFAN (Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans) syndrome of unknown etiology. Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in fo...
OBJECTIVE:
Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practic...