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Öğe 17? Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort(Springer, 2024) Siklar, Zeynep; Camtosun, Emine; Bolu, Semih; Yildiz, Melek; Akinci, Aysehan; Bas, Firdevs; Dundar, IsmailPurpose17 alpha Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.MethodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.ResultsMean age at admission was 13.54 +/- 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.ConclusionThis study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.Öğe 46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report(Galenos Yayincilik, 2022) Ciftci, Nurdan; Kayas, Leman; Camtosun, Emine; Akinci, AysehanThe enzyme 17-beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD3) catalyzes the biosynthesis of testosterone (T) from Delta 4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17 beta-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46,XY sex developmental disorder (DSD). Patients with 46,XY karyotype can exhibit a wide phenotypic spectrum, varying from complete external female genitalia to male genitalia with hypospadias. Here we report a case of 17 beta-HSD3 deficiency diagnosed in the infantile period who was later found to have a novel HSD17B3 gene variation. The 14-month old patient, who exhibited a female phenotype, presented with a bilateral lump in the inguinal area. Imaging revealed bilateral testicular gonads in the inguinal area. Hormonal evaluation showed low levels of basal and stimulated serum T, a high level of androstenedione (A), and a low T/A ratio. Chromosomal analysis showed 46,XY karyotype. Sequence analysis of the HSD17B3 gene revealed a c.673_1G>C homozygous class 2 (splice site) variation in intron 9. The consanguineous parents were sequenced, and both were heterozygous for the same mutation. This variation has not been previously reported in the literature. In conclusion, a 46,XY DSD should be considered in patients with a female phenotype who exhibit gonad(s) in the inguinal area at an early age. Furthermore, in patients with insufficient T synthesis and high levels of androstenedione, 17 beta-HSD3 should be considered, and molecular analysis should be done for a definitive diagnosis and subsequent genetic counseling.Öğe Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family(Lippincott Williams & Wilkins, 2019) Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; Esener, Zeynep; Camtosun, Emine; Akinci, AysehanFBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.Öğe A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment(Galenos Yayincilik, 2019) Camtosun, Emine; Akinci, Aysehan; Demiral, Emine; Tekedereli, Ibrahim; Sigirci, AhmetCleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder that is characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature and other changes in skeletal patterning and growth. The gene responsible for pathogenesis has been mapped to the short arm of chromosome 6p21, core binding factor alpha-1 (CBFA1) or runt related transcription factor-2 (RUNX2). Here we describe a CCD patient with a novel mutation in the RUNX2 gene. A five-and-a-half year old girl presented with severe short stature, dysmorphic facial appearance (hypertelorism, prominent forehead, high palate, midfacial hypoplasia), macrocephaly, large anterior fontanelle, increased anteroposterior chest diameter. Her shoulders were close to each other and her bilateral clavicles appeared short on physical examination. Bilateral hypoplastic clavicles, coxa valga, hypoplasia of iliac bones, wide symphysis pubis and phalangeal dysplastic features were detected on her skeletal X-ray examination. She was diagnosed as having CCD. Molecular analysis detected a novel heterozygous mutation 'NM_001024630.3p.T155P(c.463A > C)' in the RUNX2 gene. At age seven years and two months old, because of her severe short stature, growth hormone (GH) treatment was started and she responded well to GH therapy with no adverse effects. In conclusion, hypoplasia or aplasia of the clavicles, failure of cranial suture closure, dental anomalies and short stature should bring CCD to mind. We present a novel mutation in the RUNX2 gene for CCD. We obtained growth velocity gain with GH treatment in our patient.Öğe Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus(Galenos Publ House, 2023) Baysal, Senay Gueven; Ciftci, Nurdan; Duendar, Ismail; Bueyuekavci, Mehmet Akif; Yagin, Fatma Hilal; Camtosun, Emine; Dogan, Derya GuemuesObjective: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the parents of children diagnosed with type 1 diabetes mellitus (T1DM).Methods: The sample consisted of 110 children, aged between 4-17 years and their mothers. The patients had been diagnosed with T1DM for at least one year, and had attended pediatric endocrinology outpatients or were hospitalized in a single center. First, sociodemographic information about the child with T1DM were obtained. Then, the Family Management Measure (FaMM) was applied. The FaMM is constructed to measure family functioning and management in families who have a child with a chronic illness.Results: Paternal years of education (p=0.036), family income (p=0.008), insulin pump use (p=0.011), and time elapsed after diagnosis (p=0.048) positively affected both the management of T1DM and the child's daily life. However, presence of chronic diseases in addition to T1DM (p=0.004) negatively affected diabetes management. Higher maternal education year (p=0.013) and family income level (p=0.001) increased parental mutuality scores. However, as the time after diagnosis increased, parental mutuality scores decreased.Conclusion: It is important to evaluate the child with chronic disease with a biopsychosocial approach. This approach aims to evaluate the problems of the child and his/her family who experience the disease with a holistic approach.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, LemanObjective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies of patients with IHH using NGS, including 54 IHH-associated genes, and to present protein homology modeling and protein stability analyzes of the detected variations.Methods: Clinical and demographic data of 16 patients (eight female), aged between 11.6-17.8 years, from different families were assessed. All patients were followed up for a diagnosis of nIHH, had normal cranial imaging, were without anterior pituitary hormone deficiency other than gonadotropins, had no sex chromosome anomaly, had no additional disease, and underwent genetic analysis with NGS between the years 2008-2021. Rare variants were classified according to the variant interpretation framework of the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology. Changes in protein structure caused by variations were modeled using RoseTTAFold and changes in protein stability resulting from variation were analyzed.Results: Half of the 16 had no detectable variation. Three (18.75%) had a homozygous (pathogenic) variant in the GNRHR gene, one (6.25%) had a compound heterozygous [likely pathogenic-variants of uncertain significance (VUS)] variant in PROK2 and four (25%) each had a heterozygous (VUS) variant in HESX1, FGF8, FLRT3 and DMXL2. Protein models showed that variants interpreted as VUS according to ACMG could account for the clinical IHH.Conclusion: The frequency of variation detection was similar to the literature. Modelling showed that the variant in five different genes, interpreted as VUS according to ACMG, could explain the clinical IHH.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism (vol 15, pg 160, 2023)(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, Leman[Abstract Not Available]Öğe Is There a Predictive Factor for an Association with Autoimmune Glandular Disease in Children Diagnosed with Celiac Disease?(Galenos Publ House, 2022) Varol, Fatma Ilknur; Camtosun, Emine; Selimoglu, Mukadder Ayse; Gungor, SukruObjective: A close relationship has been suggested between Celiac disease (CD) and glandular autoimmunity. The aim of this study was to determine the predictive factors for autoimmune glandular disease (AGD) in children with CD.Methods: The study included 228 pediatric patients, diagnosed with CD between 2010 and 2019. The cases with AGD (Group 1) and those without AGD (Group 2) and the patients with type 1 diabetes mellitus (T1DM) (Group A) and those without T1DM (Group B) were retrospectively reviewed and compared in terms of clinical and laboratory features.Results: AGD was detected in 8.8% (n=20) of the patients: T1DM in 13 (65%), T1DM and Hashimoto's thyroiditis (HT) in 3 (15%), HT only in 2 (10%), T1DM and Graves disease (GD) in 1 (5%), and GD only in 1(5%). The mean age at the diagnosis of CD was significantly higher in Group 1 (10.93 +/- 4.15 years) compared to Group 2 (8.10 +/- 4.19 years) (p<0.05) and also was significantly higher in Group A compared to Group B (p<0.05). Most of the diagnoses of AGD were made before the diagnosis of CD and age was an effective factor. There was no difference between Group 1 and Group 2 and Group A and Group B in terms of gender, typical/atypical CD ratio, tissue transglutaminase IgA (TTGA) level, human leucocyte antigen (HLA)-DQ2 and/or HLA-DQ8 positivity rate, and histopathological stage.Conclusion: Although patients with a diagnosis of co-existent CD and AGD were significantly older than patients with isolated CD, gender, celiac symptoms, TTGA level, HLA type, and histopathological stage had no predictive value for the coexistence of AGD in patients with CD.Öğe Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries(Clinics Cardive Publ Pty Ltd, 2019) Akinci, Aysehan; Karakurt, Cemsit; Hwa, Vivian; Dundar, Ismail; Camtosun, EmineLaron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1) deficiency. Cardiac abnormalities, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with Laron syndrome, but cardiac hypertrophy has been observed after IGF1 therapy. In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c.784>C mutation.Öğe Liraglutide Treatment in a Morbidly Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success(Galenos Publ House, 2023) Camtosun, Emine; Akinci, Ehan; Kayas, Leman; Ciftci, Nurdan; Tekedereli, IbrahimVariants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight loss in the short term. In this paper, our experience with liraglutide treatment in an adolescent patient carrying a MC4R gene variant is presented. A female patient was admitted first at the age of 12.5 years with a complaint of progressive weight gain. She had marked excess of appetite since infancy. On physical examination of the pubertal female patient with a body mass index (BMI) of 36.1 kg/m(2) (3.48 standard deviation score), there was no pathological finding except diffuse acanthosis nigricans. Laboratory examinations revealed only insulin resistance. Weight loss was not achieved with lifestyle changes, metformin and orlistat treatments. On genetic examination, a sporadic heterozygous c.206T > G(p.I69R) variant that had been reported previously, was found in MC4R gene. Treatment with the GLP-1 RA, liraglutide, was initiated and a 19.2% reduction was achieved in the body weight and BMI at the end of 32 weeks. However, the patient, whose treatment compliance was disrupted due to significant gastrointestinal complaints, returned to her former weight within a few months (13 weeks) after treatment was stopped. In this case with a known pathogenic variant in MC4R gene, decrease of appetite and weight loss were achieved with liraglutide treatment, but side-effects of this treatment led to discontinuation of therapy. In such cases, there is need for effective and tolerable treatment options.Öğe Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience(Galenos Yayincilik, 2021) Camtosun, Emine; Dundar, Ismail; Akinci, Aysehan; Kayas, Leman; Ciftci, NurdanObjective: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified. Methods: Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail. Results: Seventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient. Conclusion: Etiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.Öğe Presentation, diagnosis and follow-up characteristics of 17?-hydroxylase deficiency cases with exon 1-6 deletion (founder mutation) in the CYP17A1 gene: 20-years single-center experience(Karger, 2023) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, LemanContext: 17 alpha-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect.Aim: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1.Results: The median age at diagnosis was 14.0 (3.5-16.8) years. Nine of 13 (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n=8, 61.5%), followed by hypertension (n=3, 23.0%) and family screening (n=2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia.Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1, including exons 1-6, is the founder mutation for Turkey's East and Southeast regions.Öğe Trend in initial presenting features of type 1 diabetes mellitus over a 24 year period in Turkey: a retrospective analysis of 814 cases(Turkish J Pediatrics, 2022) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, Leman; Nalbantoglu, OzlemBackground. The study aim was to examine changes in trends of presenting features during the diagnosis of patients followed up with newly diagnosed Type 1 diabetes mellitus (T1DM) over the past 24 years. Methods. The study was retrospective. Patients with a diagnosis of T1D between the years of 1996-2019 were included. Patients diagnosed in the first half of the period comprised Period I, and those from the second half comprised Period II. Patient data were extracted from medical records and included gender distribution, year of diagnosis, age at diagnosis, duration of symptoms, type of admission, frequency of diabetic ketoacidosis (DKA) and biochemical parameters. Subsequently, temporal changes in trends of these parameters were sought. Results. For the whole cohort the gender distribution was equal; 404 (49.6%) were girls and 410 (50.4%) were boys. Mean age at diagnosis was 8.5 +/- 4.2 years and age groupings at presentation were: 23.2% (n = 189) aged 0-4; 39.2% (n = 319) aged 5-9; 27.5% (n = 224) aged 10-13; 10.1% (n= 82) aged 14-18. At presentation 72 (12.7%) had hyperglycemia, 230 (40.6%) had diabetic ketosis, and 264 (46.6%) had DKA. In those with DKA, mild DKA was found in 103 (39.0%), moderate DKA in 81 (30.6%), and severe DKA in 80 (30.3%). While the frequency of DKA was 54.9% between 1996 and 2007 (Period I), this significantly decreased to 44.4% between 2008 and 2019 (Period II). Girls and boys had a similar rate of T1DM, and this did not change over time. Three peak ages of diagnosis were evident; 5-7, 8-10, 12-14 years of age. Conclusions. The frequency of DKA decreased and the frequency of admission with hyperglycemia and ketosis increased during the study period, which may have repercussions for mortality and morbidity rates and aid in improved treatment outcomes.Öğe Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkish Family: A Novel Mutation in the 'Aladin' Gene(Karger, 2018) Akinci, Aysehan; Dundar, Ismail; Camtosun, Emine; Kayas, Leman[Abstract Not Available]Öğe Type 1 Diabetes Incidence Trends in a Cohort of Turkish Children and Youth(Aves, 2023) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Kayas, Leman; Ciftci, Nurdan; Ozcetin, ErdenerObjective: The aim was to analyze the incidence trend and annual average incidence change of type 1 diabetes (T1DM) in the population <18 years of age in Malatya province. Materials and Methods: Medical files of patients followed up with T1DM in pediatric endocrinology clinics were reviewed. The data for the child census was taken from the Turkish Statistical Institute (TUIK), and T1DM incidence was analyzed according to the calendar year, gender, and age groups. Recently diagnosed T1DM patients per 100 000 children per year were calculated. In addition, the trend in annual incidence change over the period 2007-2019 was analyzed. Results: The mean incidence of T1DM during the 13 years was 13.1/105 child years (13.8/105 child years for girls and 12.4/105 child years for boys). During the 13-year follow-up period, a significant increasing trend in the incidence of T1DM was detected. The average annual percent change (AAPC) was 8.3%. According to age groups, the average AAPC was 8.1% between 0 and 4 years old, 9.4% between 5 and 9 years old, 12.1% between 10 and 14 years old, and 30.1% between 15 and 17 years old. Conclusion: The incidence of T1DM in children under 18 years of age in Malatya, one of the largest cities in the Eastern Anatolia region of Turkey, was determined as 13.1/105 child years in the last 13 years and the average annual increase rate was 8.3%.
