Tip 1 Diyabetes Mellituslu Çocuklarda Tanı Anındaki Klinik ve Laboratuvar Bulgularının Değerlendirilmesi

Objective: The aim of our study is to evaluation of clinical and laboratory findings at the time of diagnosis in children with Type 1 Diabetes Mellitus (T1DM). Methods: In this study, 142 children diagnosed with T1DM who were referred to Pediatric Endocrinology Policlinic and Emergency Policlinic of Dicle University Medical Faculty between 2013 and 2016 were evaluated. Retrospectively, the sociodemographic characteristics, symptoms and laboratory findings of the patients were recorded from the files. All the data obtained were evaluated statistically. Results: Sixty two (43.66%) of the patients were girls. The mean age was 10,10 ± 1,39 years. The blood glucose level at diagnosis was 425,85 ± 12,51 mg/dl and HbA1c was 13,57 ± 3,77. Anti-Glutamate Decarboxylase (anti-GAD) positivity was detected in 47.8% of the cases. 18.3% of the patients had a T1DM story in their family. Patients were diagnosed mostly in January (12.6%) and November (11.9%). 83.8% of cases had both polyuria and polydipsia, 41.5% had consciousness level change and 6.3% had coma. Ketoacidosis was present in 43% of the patients at the time of admission, ketosis in 48.5% and only hyperglycemia in 8.5%. Conclusion: Type 1 DM is mostly observed in adolescence. The most common symptoms of the disease are polyuria and polydipsia. For this reason the community needs to be educated that polyuria and polydipsia may have T1DM findings. Awareness of the community in this issue can reduce the frequency of diabetic ketoacidosis, the most important complication of diabetes

Large congenital cystic asdenomatous malformation of the lung in a newborn

Congenital cystic adenomatous malformation (CCAM) oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatmen

A novel variant inLCHGRgene in 3 siblings with type 1 Leydig cell hypoplasia

tas, funda feryal/0000-0003-2438-0602WOS: 000547624100001PubMed: 32654531Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. the patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea. in this article, the cases of three siblings who presented with primary amenorrhea and who had LCH were presented. Case A 16-year-old patient with female phenotype is presented with primary amenorrhea. Breast development was at Tanner stage 1, the external genitalia were completely in female phenotype. the karyotype was determined as 46, XY. the hormonal analyses revealed that the testosterone synthesis was insufficient despite the high level of luteinizing hormone (LH). Cortisol, ACTH, 17-Hydroxyprogesterone, and AMH levels were normal. LCH diagnosis was considered in the patient with elevated LH and no testosterone synthesis. A new mutation of homozygous c.161 + 4A > G was detected inLHCGRgene. the same mutation was detected in the patient's two siblings with female phenotype and 46, XY karyotype. Conclusion in patients presenting with primary amenorrhea and karyotype 46, XY, there is no testosterone synthesis and if there is LH elevation, LCH should be considered. We found a novel variant in theLHCGRgene in three siblings with karyotype 46, XY and female phenotype

Clinical and laboratory characteristics of patients with congenital hypothyroidism

GİRİŞ: Konjenital hipotiroidi (KH) günümüzde hala çocuklarda önlenebilir mental retardasyonun en sık sebeplerindendir. Bu çalışmada kalıcı ve geçici konjenital hipotiroidili vakaların etyolojileri, laboratuvar bulguları, tedavi dozları ve süreleri karşılaştırılmıştır. GEREÇ ve YÖNTEM: Konjenital hipotiroidi tanısı ile en az 3 yıl takip edilen 106 hasta (42 kız, 64 erkek) çalışmaya alındı. Hastaların dosyaları retrospektrif olarak tarandı. Tanı anında, tedavinin birinci, ikinci ve üçüncü yılında ve tedavi kesildikten 4-6 hafta sonra bakılan TSH, FT4, FT3, boy SDS, kilo SDS ve tedavi dozları not edildi. BULGULAR: Hastaların %41.5’inde kalıcı KH, %58.5’inde ise geçici KH saptandı. Kalıcı hipotiroidilerin en sık sebebi tiroid disgenezileri (%34) iken, geçici KH’li hastalarda en sık sebep dishormonogenezis (%38,7) idi. En sık saptanan semptomlar uzamış sarılık ve kabızlıktı. Hastaların büyük çoğunluğunu tarama testi sonucuyla polikliniğe yönlendirilen (%27.4) ve tarama testi sonucunu beklemeden rutin muayene amaçlı polikliniğimize başvuran (%27.4) hastalar oluşturmaktaydı. Gruplar arasında tanı esnasındaki serum TSH, sT4 ve sT3 seviyeleri açısından anlamlı fark yoktu (sırası ile p=0.955, p=0.532, p=0.23). Geçici KH grubunda tiroglobulin düzeyi anlamlı olarak yüksekti (p=0.026). Takiplerde kalıcı KH’li hastaların FT3 düzeyleri anlamlı ölçüde daha düşük idi. (sırasıyla p=0.003, p=0.017, p=0.032). SONUÇ: Çalışmamızda geçici KH oranının daha yüksek olduğu ve geçiçi KH’lilerin büyük çoğunluğunun dishormonogenezise bağlı olduğu görülmüştür. Tanı anındaki tiroid hormonu seviyelerinin kalıcı ve geçici KH ayırımında belirleyici olmadığı gösterilmiştir. Ancak takiplerde ihtiyaç duyulan ilaç dozunun ve TSH düzeyinin yüksek olması ve FT3 seviyesinin düşük seyretmesi kalıcı KH’yi ayırt etmede kullanılabileceği sonucuna varılmıştır.INTRODUCTION: Congenital hypothyroidism (CH) is still the most common cause of mental retardation. ln this study, etiology, laboratory findings, treatment doses, durations of permanent and transient CH cases were compared. METHODS: 106 patients (42 female, 64 male) who had been treated for CH for at least 3 years were included. Patients’ files were retrospectively scanned. TSH, FT4, FT3, height, weight and treatment doses, findings at the first time of diagnosis, first, second, and third year of treatment and 4-6 weeks after the treatment was ended, were noted. RESULTS: Permanent CH was found in 41.5% of patients and transient CH was found in 58.5% of patients. The most common cause of permanent hypothyroidism was thyroid dysgenesis (34%). dyshormonogenesis (38.7%) was the most frequent cause in patients with transient CH. The most common symptoms were hyperbilirubunemia and constipation. 27 % of the patients were referred to the outcome screening program and 27% of the patients were visited for routine control. Serum TSH, FT4 and FT3 levels at diagnosis were not significantly different between the groups (p = 0.955, p = 0.532, p = 0.23). The level of thyroglobulin was significantly higher in the transient CH group (p =0,026). FT3 levels of patients with permanent CH were significantly lower during follow-up.( p= 0.003, p = 0.017, p = 0.032). CONCLUSION: In our study, it is found that the ratio of transient CH is higher and most of the transient cases were attributed to dyshormonogenesis. It is shown that the thyroid hormone levels at the time of diagnosis is not significantly different in the differential diagnosis of permanent and transient CH. However, it is concluded that the need for higher dose in the treatment during follow up and the higher TSH levels, and the lower fT3 levels can be used in diagnosis of permanent CH

A Novel Mutation of AMHR2 in Two Siblings with Persistent Mullerian Duct Syndrome

WOS: 000451667000014PubMed ID: 29687786Persistent Mullerian Duct syndrome (PMDS) develops due to deficiency of anti-Mullerian hormone (AMI I) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated with persistence of Mullerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescended testis. His karyotype was 46,XY. The increase in testosterone following human chorionic gonadotropin stimulation test was normal. The patient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized during the orchiopexy surgery. The family reported that the eight year old elder brother of the patient was operated on for right inguinal hernia and left undescended testis at the age of one year. A right transverse testicular ectopia was found in the elder brother. Both cases had normal AMH levels. AMHR2 gene was analyzed and a homozygous NM_020547.3:c.233-I G> A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the AMHR2 gene that was identified for the first time. This presented with different phenotypes in two siblings

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene

WOS: 000451667000012PubMed ID: 29553041Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the Female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A > G (c.744-2A >G) was identified in the CYP19A1 gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency

A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency

Aim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. Results The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. Conclusions P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.WOS:0007135759000012-s2.0-85118334339PubMed: 3472415

The Association between Depression and Vitamin D and Parathyroid Hormone Levels in Adolescents

Background Depression, a challenging disorder, affects 1–6% of adolescents and early onset often predicts more serious manifestations in later life. Elevated Parathyroid hormone (PTH), parathormone levels have reported among adults with depression. In this study, the roles of 25(OH) D (vitamin D) and parathormone during adolescence, in which the frequency of depression is high, were studied. Materials and Methods Patients who were followed-up jointly at both clinics and whose 25(OH) D and PTH levels were evaluated and questioned "Depression Scale for Children" for depression at the same time, were included in the study. Cases’ socio-demographic data, 25(OH) D and PTH levels and Depression Scale’ scores were recorded. Results Depression was diagnosed in 35 (25.3%) of the 138 patients. No differences were found between vitamin D and parathormone in terms of age and gender in groups either with or without depression. Negative correlation was found between the vitamin D levels and depression score in the group with depression   (r=-0.368; P=0.03). A significant and positive correlation was found between the PTH levels and depression score (r=0.399; P=0.018). A significant and negative correlation was found between 25(OH) D and PTH levels. Conclusion Even if clinical depression is absent, the frequency of depressive symptoms is increased with decreased vitamin D levels and increased PTH levels, independent of other factors.  The prevention of depression, specifically in adolescents, is important to decrease possible suicidal and homicidal thoughts that might arise during adulthood, and substance abuse. Maintaining vitamin D support during adolescence, as with the first year of life, is necessary for both the prevention and treatment of depression