Pages I - XI
|2.||Emergence of Ectopic Adrenal Tissues-What are the Probable Mechanisms?|
Gürkan Tarçın, Oya Ercan
doi: 10.4274/jcrpe.galenos.2021.2021.0148 Pages 258 - 266
Ectopic adrenal tissue, defined as the formation of adrenal tissue in an abnormal anatomical location, is not a rare entity and may have clinical significance. Even though the mechanism for their emergence has not been fully understood, numerous cases of ectopic adrenal tissue have been reported, mostly in the vicinity of the original location of adrenal gland, such as in kidneys and gonads. In these cases, most authors attributed their emergence to a probable migration defect. However, this mechanism does not simply explain the ectopic tissues in remote locations, such as in the hypophysis or lungs. This review summarizes these reports, describing many different locations in which ectopic adrenal tissues were encountered, together with their suggested mechanisms.
|3.||A Long-Term Comparison of Presenting Characteristics of Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic|
Gülay Kaya, Emine Ayça Cimbek, Osman Yeşilbaş, Yusuf Emre Bostan, Gülay Karagüzel
doi: 10.4274/jcrpe.galenos.2022.2021-10-2 Pages 267 - 274
INTRODUCTION: Diabetic ketoacidosis (DKA) - a potentially preventable complication of type 1 diabetes mellitus (T1D) - is one of the most common chronic childhood diseases, and is associated with a significant risk of morbidity and mortality. The limited use of healthcare services due to fear of Coronavirus disease-2019 (COVID-19) transmission during the pandemic has raised concerns of delays in T1D diagnosis, among other diseases. This study investigated the presenting characteristics of newly diagnosed T1D patients assessed in a single clinic during the pandemic and compares them with the pre-pandemic period.
METHODS: For the purpose of this study, the first year of the pandemic is referred to as the pandemic period, and the previous three years as the pre-pandemic period. Patient files were reviewed retrospectively, the demographic and clinical characteristics and laboratory findings of the patients were recorded, and the findings from both periods were compared.
RESULTS: The number of patients diagnosed with T1D in the pandemic period was 44, and in the pre-pandemic period 39 in 2017, 22 in 2018 and 18 in 2019. The two groups had similar age, sex, pubertal stage and anthropometric characteristics (p>0.05). Regarding the type of presentation, the frequency of DKA was significantly higher in the pandemic period (68.2%) than in the pre-pandemic period (40.5%) (p=0.006), and this difference was also observed in the comparison by years (p=0.016). The duration of symptoms (16.5±10.7 vs. 23.5±17.6 days) and the length of hospital stay (10±3.9 vs. 15.2±5.5 days) were significantly shorter in the pandemic period (p=0.032, and p<0.001, respectively). There was no difference in the frequency of severe DKA between the pandemic (46.7%) and the pre-pandemic (37.5%) periods (p>0.05). However, pH (7.17±0.16 vs. 7.26±0.14) and bicarbonate (12.8±6.3 vs. 16.6±6.3) levels were significantly lower in the pandemic period (p<0.005). Additional signs of infection on admission were less frequent in the pandemic period (9.1%) than in the pre-pandemic period (27.8%) (p=0.027). The groups did not differ in terms of hemoglobin A1c, C-peptide, concurrent thyroid autoantibodies and tissue transglutaminase antibodies (p>0.05). The rate of anti-glutamic acid decarboxylase positivity was higher in the pandemic period (73.8% vs. 39.2%) (p=0.001) while the frequency of other diabetes-associated autoantibodies was similar between the groups (p>0.05). The polymerase chain reaction test for COVID-19 was negative in six patients with a history of contact.
DISCUSSION AND CONCLUSION: There was an increased frequency and severity of DKA in children with newly diagnosed T1D in the pandemic period, and these findings justify concerns related to the diagnosis of other diseases during the pandemic. Studies to raise awareness of diabetes symptoms during the pandemic should be continued regularly to reach all segments of society. Our study provides an additional contribution to the literature in its coverage of the one-year period during the pandemic and its comparison with the previous three years.
|4.||Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency|
Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu
doi: 10.4274/jcrpe.galenos.2022.2021-10-14 Pages 275 - 286
INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG. In this study, we evaluated cause, treatment options and outcomes in cases with hypoglycemia in the course of PMM2-CDG.
METHODS: Clinical records of patients followed with PMM2-CDG within the last two decades were reviewed. Medical data of patients with hypoglycemia were evaluated in more detail. Demographic and clinical findings, organ involvement and laboratory investigations at time of hypoglycemia were recorded. Time of first attack of hypoglycemia, cause, treatment modalities, duration of hypoglycemia (permanent/transient), and duration of treatment, as well as outcome were also recorded. Other published cases with PMM2-CDG and hypoglycemia are also reviewed in order to elucidate characteristics as well as pathophysiology of hypoglycemia.
RESULTS: Nine patients with PMM2-CDG were reviewed, and hypoglycemia was present in three cases. All three had hyperinsulinism as the cause of hypoglycemia. In the first two cases reported here, serum insulin level concurrent with hypoglycemic episodes was elevated, and glucose response was exaggerated during glucagon test, favoring hyperinsulinism. However, in the third case, the serum insulin level at time of hypoglycemia was not so high but hypoglycemia responded well to diazoxide. Hyperinsulinism was permanent in two of these three cases. No genotype-phenotype correlation was observed with respect to hyperinsulinism.
DISCUSSION AND CONCLUSION: The main cause of hypoglycemia in PMM2-CDG appears to be hyperinsulinism. Although insulin levels at the time of hypoglycemia may not be very high, hypoglycemia in patients with PMM2 responds well to diazoxide.
|5.||Incidence of Newly Diagnosed Type 1 Diabetes Mellitus in Children and Adolescents in Henan Province of China from 2017 to 2020: A Retrospective Multicenter Study Based on Hospitalization Data|
Qiong Chen, Na Xu, Yongxing Chen, Mingming Yan, Fengyan Tian, Wei Yang, Yan Cui, Ai Huang, Yangshiyu Li, He Zhang, Zhihong Jiang, Ruizhi Zheng, Yuan Ji, Dongming Zhang, Qiao Ren, Li Ding, Haiyan Wei
doi: 10.4274/jcrpe.galenos.2022.2022-12-4 Pages 287 - 292
INTRODUCTION: The incidence of type 1 diabetes mellitus (T1DM) is rapidly increasing worldwide. However, the incidence in Henan Province of China has been unknown for more than two decades. This study aimed to estimate the incidence of T1DM in the 0.5-14.9 years age group in Henan Province of China from 2017 to 2020.
METHODS: A retrospective analysis of hospital registration data from 18 cities in Henan Province, China, identified 1726 patients (843 males, 883 females) between 0.5-14.9 years of age with newly diagnosed T1DM in Henan Province from January 1st, 2017, to December 31st, 2020, covering more than 19 million children years at risk.
RESULTS: The crude incidence of T1DM per 100 000 person years for the 0.5-14.9 years age group in the Henan Province of China was 2.19 [95% confidence interval (CI): 1.99, 2.40], with a peak in the 10-14.9 years age group. The rate ratio of females to males was 1.32 (95% CI: 1.20, 1.45) in the 0.5-14.9 years age group. The incidence rate was higher in females than males in the 5-9.9 years age group (p<0.01) and the 10-14.9 years age group (p<0.01). The seasonality of the incidence was different from that in previous reports, with the lowest incidence in the spring.
DISCUSSION AND CONCLUSION: The incidence of T1DM in the 0.5-14.9 years age group in Henan Province was still among the lowest reported globally, but was in line with other incidence rates reported from China.
|6.||Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model|
Leman Damla Kotan
doi: 10.4274/jcrpe.galenos.2022.2022-3-11 Pages 293 - 301
INTRODUCTION: With the increasing use of whole-exome sequencing, one of the challenges in identifying the causal allele for a Mendelian disease is the lack of availability of population-specific human genetic variation reference databases. The people of Turkey were not represented in GnomAD or other publicly available large databases until recently, when the first comprehensive genomic variation database, Turkish Variome (TRV), was published. The aim of this study was to evaluate whether TRV or other publicly available large genomic variation databases can reliably be used for rare disease variant evaluation in Turkish individuals.
METHODS: Sixty non-disease-causing, non-synonymous variants (minor allele frequencies >1%) were identified in 58 genes that are known to be associated with idiopathic hypogonadotropic hypogonadism from a large Turkish patient cohort. The allelic frequencies of these variants were then compared with those in various public genomic variation databases, including TRV.
RESULTS: Our cohort variants showed the highest correlations with those in the TRV, Iranome, and The Greater Middle East Variome, in decreasing order.
DISCUSSION AND CONCLUSION: These results suggest that the TRV is the appropriate database to use for rare genomic variant evaluations in the Turkish population. Our data also suggest that variomes from geographic neighborhoods may serve as substitute references for populations devoid of their own genomic variation databases.
|7.||Has the Frequency of Precocious Puberty and Rapidly Progressive Early Puberty Increased in Girls During the COVID-19 Pandemic?|
Kübra Yüksek Acinikli, İbrahim Mert Erbaş, Özge Besci, Korcan Demir, Ayhan Abacı, Ece Böber
doi: 10.4274/jcrpe.galenos.2022.2022-12-11 Pages 302 - 307
INTRODUCTION: Early puberty is development of secondary sex characteristics earlier than the expected normal age range. We subjectively observed an increased frequency of early puberty during the Coronavirus disease-2019 (COVID-19) lockdown and aimed to show the clinical, demographic characteristics of the cases and the change in its incidence.
METHODS: Female patients with central precocious puberty (CPP, n=28) and rapidly progressive early puberty (RPEP, n=61), presenting to our clinic before (January 2019-March 2020) and during the COVID-19 pandemic (April 2020-June 2021) were included.
RESULTS: Among 28 CPP cases, six (21%) presented before the pandemic lockdown, whereas 22 (79%) were diagnosed during the COVID-19 pandemic lockdown. While RPEP was seen in 16 (26%) patients before the pandemic, 45 (74%) patients were diagnosed during the lockdown period. Presentation with menarche was seen in 15 RPEP patients; two (13%) were in the prepandemic period and 13 (87%) were in the lockdown period. Chronological age, bone age, bone age to chronological age ratio, height, weight, and body mass index standard deviation scores of patients with RPEP and CPP were similar between the prepandemic and pandemic period.
DISCUSSION AND CONCLUSION: In this cohort, the frequency of CPP and RPP cases were significantly (p<0.001) increased during the COVID-19 pandemic, possibly due to environmental changes.
|8.||Autoimmune Primary Adrenal Insufficiency in Children|
Nádia Mourinho Bala, Raquel S. Gonçalves, Joana Serra Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante
doi: 10.4274/jcrpe.galenos.2022.2021-11-9 Pages 308 - 312
INTRODUCTION: Primary adrenal insufficiency (PAI) is a rare condition in children, and is potentially life-threatening. The most common cause is congenital adrenal hyperplasia, and autoimmune etiology is the most frequent acquired cause in this age group. Symptoms are usually non-specific and, when suspected, investigation should include adrenocorticotropin hormone (ACTH) and morning serum cortisol measurement and, in some cases, a cosyntropin test to confirm the diagnosis. Prompt treatment is essential to prevent an adverse outcome.
METHODS: We retrospectively collected clinical and laboratory data from adrenal insufficiency due to autoimmune adrenalitis, observed from 2015 to 2020 in a pediatric endocrinology department of a tertiary care hospital.
RESULTS: Eight patients were identified, seven males and one female, with age at diagnosis between 14 and 17 years. The symptoms at presentation ranged from non-specific symptoms, such as chronic fatigue and weight loss, to a severe presentation, with altered mental status and seizures. The median duration of symptoms was 4.5 months. The diagnosis was confirmed by serum cortisol and plasma ACTH measurement and all were confirmed to have autoimmune etiology (positive anti-adrenal antibodies). At diagnosis, the most common laboratory abnormality was hyponatremia. All patients were treated with hydrocortisone and fludrocortisone. One patient presented with evidence of type 2 autoimmune polyglandular syndrome.
DISCUSSION AND CONCLUSION: PAI is a rare condition in the pediatric age group. Due to non-specific symptoms, a high index of suspicion is necessary to establish a prompt diagnosis. Once an autoimmune etiology is confirmed, it is important to initiate the appropriate treatment and search for signs and symptoms of other autoimmune diseases during follow-up.
|9.||Analysis of Apoptotic, Clinical, and Laboratory Parameters in Type 1 Diabetes and Early Diabetic Nephropathy: Clustering and Potential Groups Evaluation for Additional Therapeutic Interventions|
doi: 10.4274/jcrpe.galenos.2022.2022-1-21 Pages 313 - 323
INTRODUCTION: Type 1 diabetes (T1D) is one of the most prevalent chronic illnesses diagnosed in childhood. Diabetic nephropathy (DN) is one of the commonest complication of T1D. Therefore the development of specific treatment that arrests progression of DN based on an individual approach would be beneficial. Analysis of criteria of apoptosis, and clinical, and laboratory characteristics in T1D and early DN in the framework of clustering may be helpful in the identification of potential groups for additional therapeutic interventions.
METHODS: A survey of 104 children (62 males, 42 females) with T1D and DN aged 2 to 17 years in the Endocrinology unit of Clinical Pediatric Hospital No 6 (Kyiv, Ukraine) was performed. Clinical data (age, gender, disease duration, blood pressure), conventional laboratory markers including complete blood count, serum cholesterol, hemoglobin A1c (Hb1Ac), glomerular filtration rate (GFR), and microalbuminurea (MAU), and markers of apoptosis (BcL-xL, caspase-3) and transcriptional factor HIF-1alfa were analyzed.
RESULTS: A cluster group in T1D children was characterized by somewhat higher number of platelets (PLT) - 344.9±7.88·109/L, increased GFR up to hyperfiltration level 124.5±8.86 mL/min/1.73 m2 and decreased anti-apoptotic defense - BcL-xL 144.9±2.35 a.u. was identified. Children with DN may be divided into three groups based on age, body mass index, systolic blood pressure, PLT count, erthyrocyte sedimentation rate, albumin/globulin ratio, serum cholesterol, Hb1Ac, number of diabetic ketoacidosis (DKA) episodes, GFR, MAU, HIF-1alfa, Bcl-xL, caspase-3 levels. Among children with early DN a cluster characterized by the following parameters was found: PLT count - 311.±12.05·109/L, frequency of DKA episodes - 4.82±0.26 episodes/year, MAU - 112.0±10.12 mm/24 h, HIF - 200.5±3.49 a.u., BcL-xL - 128.8±3.1 a.u., and caspase-3 - 159.6±5.5 a.u.
DISCUSSION AND CONCLUSION: Thus, we hypothesize that T1D pediatric patients with increased PLT count, hyperfiltration and reduced anti-apoptotic defense may represent a group for additional therapeutic interventions, such as antioxidants along with stndard therapies to achieve optimal glycemic control. Within the DN group there was a sub-group with somewhat increased PLT count, high frequency of DKA episodes/year, high MAU, prominent increase in HIF level, prominent disturbances in apoptosis controlling factors BcL-xL and caspase-3 tht may require additional therapeutic interventions, again including antioxidants, but may additionally benefit from anti-apoptotic effectors along with optimal glycemic control, and management of hypertension and albuminuria.
|10.||Psychometric Properties of the Turkish Version of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes|
Aslı Demirtaş, Burcu Aykanat Girgin, Ayla Güven, Heves Kırmızıbekmez
doi: 10.4274/jcrpe.galenos.2022.2022-2-10 Pages 324 - 333
INTRODUCTION: Resilience in diabetes refers to the capacity overcome diabetes-related challenges to achieve favorable psychosocial and health outcomes. Despite the known benefits of resilience in adolescents with type 1 diabetes mellitus (T1DM), there tends to be more emphasis on risk factors in research and practice. This study evaluated the psychometric properties of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes (DSTAR-Teen) in Turkey.
METHODS: This descriptive, methodological study was conducted between October 2020 and May 2021. The Turkish DSTAR-Teen was administered to 120 adolescents with T1DM, and the data were evaluated using Cronbachs alpha coefficients, factor analyses, test-retest correlation, and item-total score correlations.
RESULTS: The Turkish DSTAR-Teen has 12 items in two factors that explained 50.64% of the total variance. Confirmatory factor analysis revealed goodness-of-fit and comparative fit indices of 0.92 and 0.95, respectively. The total Cronbachs alpha value of the scale was 0.85. Item-total score correlations ranged from 0.49 to 0.74 (p<0.001).
DISCUSSION AND CONCLUSION: Our analyses showed that the Turkish DSTAR-Teen is a valid and reliable instrument in Turkish adolescents with T1DM. The Turkish DSTAR-Teen can be used to evaluate strengths and resilience associated with diabetes management in adolescents with T1DM in Turkey.
|11.||Diagnostic Power of Bilateral Inferior Petrosal Sinus Sampling with Desmopressin in Paediatric Cushings Disease|
Manuel André Virú-loza, Andrea Venegas Quispe
doi: 10.4274/jcrpe.galenos.2022.2022-12-9 Pages 334 - 338
INTRODUCTION: The aim of this study was to evaluate the diagnostic accuracy of bilateral inferior petrosal sinus sampling (BIPSS) with
desmopressin for pediatric Cushings disease (CD).
METHODS: We reviewed studies performed in children that evaluated the accuracy of BIPSS with desmopressin.
RESULTS: All included studies were case series of children with adrenocorticotropin hormone (ACTH)-dependent Cushings syndrome. The overall accuracy of BIPSS before stimulation was 84.1% (37/44), and after stimulation it was 92.3% (36/39). The overall lateralizing accuracy of BIPSS was 50.0%.
DISCUSSION AND CONCLUSION: Considering that available evidence is limited, it appears that BIPSS with desmopressin stimulation is accurate for the diagnosis of pediatric CD, but its lateralizing accuracy is probably not suitable for pediatric clinical practice.
|12.||Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review|
Lu Qin, Fei-Zhou Zhang, Jian-Hai Lv, Lan-Fang Tang
doi: 10.4274/jcrpe.galenos.2020.2020.0100 Pages 339 - 343
Xq22.3-q23 microdeletion is a rare genomic disorder. The purpose of this study was to emphasize the correlation between clinical phenotype and genotype of proximal deletion on chromosome Xq22.3-q23. A 5 years old boy had a 671 KB microdeletion on Xq23 by chromosomal microarray analysis, including AMMECR1 and CHRDL1 genes. He presented with microsomia, midface hypoplasia, right kidney dysplasia and mildly motor retardation, which have not previously been reported in relation to Xq23 deletion. To the best of our knowledge, this is the first case with Xq23 microdeletion. A total of nine cases with microdeletion at Xq22.3-q23 affecting AMMECR1 and two cases with CHRDL1 mutation were reviewed. This review showed that Xq23 microdeletion with microsomia, midface hypoplasia, kidney dysplasia, and mild motor retardation was rare. The previous literature showed two novel point mutations in AMMECR1 and CHRDL1 with some phenotype difference from the presented case. Xq23 microdeletion should be considered for patients with microsomia, midface hypoplasia, kidney dysplasia and growth retardation.
|13.||Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia|
Ana Castellano-Martinez, Silvia Acuñas-soto, Virginia Roldan-cano, Moises Rodriguez-Gonzalez
doi: 10.4274/jcrpe.galenos.2021.2020.0287 Pages 344 - 349
X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule. Most pediatric patients debut in the first two years with short stature and bowed legs. Conventional treatment consists of oral supplements with phosphorus and calcitriol. Since 2018, burosumab has been approved as a novel therapeutic option for XLH, with promising results. The purpose of this study was to share our experience with two cases of XLH treated with burosumab. These patients presented with a broad phenotypical differences. One had the most severe radiological phenotype and developed left ventricular hypertrophy (LVH) and left ventricular dysfunction with preserved ejection fraction. Treatment with burosumab was well-tolerated and was followed by radiological stability and a striking improvement in both blood biochemistry and quality of life. The LVH was stable and left ventricular function normalized in the patient with cardiac involvement. In recent years many studies have been carried out to explain the role of FGF23 in cardiovascular damage, but the exact pathophysiological mechanisms are as yet unclear. The most intensively studied populations are patients with XLH or chronic kidney disease, as both are associated with high levels of FGF23. To date, cardiovascular involvement in XLH has been described in patients treated with conventional treatment, so it would be of interest to investigate if early use of burosumab at the time of diagnosis of XLH would prevent the occurrence of cardiovascular manifestations.
|14.||Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey|
Emine Kartal Baykan, Ayberk Türkyılmaz
doi: 10.4274/jcrpe.galenos.2021.2020.0301 Pages 350 - 355
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated insulin-like growth factor 1 levels, and is characterised by somatic overgrowth and physical disfigurement, notably affecting hands and feet. We present two cases referred with an initial diagnosis of acromegaly that were ultimately diagnosed as PDP. Case 1: A 17 year-old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening of facial skin lines and forehead skin, and excessive sweating which increased gradually over five years. There were prominent skin folds on the forehead, face, and eyelids. Also, there was an enlargement in both hands and clubbing of the fingers. There was marked swelling in the knee joints and ankles. Genetic analysis revealed a novel homozygous variant NM_005630: c.31C>T (p.Q11*) in the SLCO2A1 gene. Case 2: A 16 year-old boy presented with coarsening of forehead skin and scalp, excessive sweating, and pain in the elbow and knee over three years. Skin folds were prominent on the forehead and scalp. Genetic analysis revealed a homozygous variant NM_005630.2: c.86delG (p.G29Afs*48) in the SLCO2A1 gene. Such clinical presentation contemporaneous with normal GH level and prominent radiological abnormalities prompted the diagnosis of PDP. In conclusion, PDP is a very rare osteoarthrodermopathic disorder with clinical and radiographic presentation that may mimic acromegaly. In the evaluation of patients with acromegaloid appearance, PDP should be considered as a differential diagnosis.
|15.||Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment|
Tuğba Kontbay, Zeynep Şıklar, Serdar Ceylaner, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2021.2020.0273 Pages 356 - 360
Sotos syndrome (SS) 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) has only been reported in three cases previously. Here, we reported a case of SS diagnosed in the infancy period with central PP. The discovery of potential factors that trigger puberty is one of the central mysteries of pubertal biology. Depot gonadotropinreleasing hormone analogs constitute the first-line therapy in central PP (CPP), which has proven to be both effective and safe. In our cases, leuprolide acetate at maximum dose was not successful in controlling pubertal progression, and cyproterone acetate (CPA) was added to therapy, with successful control of pubertal progression. In some specific syndromes with PP, such as SS, treatment can be challenging. CPA may be an asset for effective treatment.
|16.||Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset|
Gülay Karagüzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazıl Orhan
doi: 10.4274/jcrpe.galenos.2021.2021.0005 Pages 361 - 365
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.
|LETTER TO THE EDITOR|
|17.||Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic|
Rujittika Mungmunpuntipantip, Viroj Wiwanitkit
doi: 10.4274/jcrpe.galenos.2022.2022-3-22 Pages 366 - 367
Abstract | Full Text PDF
|18.||In response to: Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic|
Emine Ayça Cimbek, Gülay Kaya, Osman Yeşilbaş, Gülay Karagüzel
doi: 10.4274/jcrpe.galenos.2022.2022-3-22-reply Pages 368 - 369
Abstract | Full Text PDF