Is Cranial Magnetic Resonance Imaging Necessary in Every Patient with Central Precocious Puberty?

INTRODUCTION: Central Precocious Puberty (CPP) is more common in girls and it is usually idiopathic. Although cranial magnetic resonance imaging (MRI) is recommended in patients with CPP that starts before the age of 6 to elucidate the underlying pathology, performing cranial magnetic resonance imaging in patients who are between the ages of 6 and 8 is controversial. In this study, we aimed to evaluate cranial MRI results and the frequency of intracranial lesions in girls who were diagnosed with CPP. METHODS: In the study, 121 female patients with CPP were included. In the review of the medical records of the patients, anthropometric measurements, laboratory findings and cranial MRI findings were evaluated. RESULTS: The mean age of the patients included in the study was found as 7.24 +- 1.04 years. In 7 (5.8%) of the 121 patients, lesions definitely associated with CPP were detected; in 5 (4.1%) patients, lesions possibly associated with CPP were detected and in 12 (9.9%) patients, lesions that did not induce CPP (incidentaloma) were detected. Neurological findings were not present in all of the patients with cranial pathology. All of the patients with intracranial lesions were between the ages of 6 and 8. DISCUSSION AND CONCLUSION: In our study, contrary to many previous studies, the frequency of cranial pathology was found to be high in patients with CPP that started after the age of 6. Therefore, we recommend performing cranial MRI in all girls who are diagnosed with CPP before the age of 8, regardless of the presence of neurological findings

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

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

Peer reviewe

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised

Efficacy and safety of oral alendronate treatment in children and adolescents with osteoporosis

Objectives: To evaluate the efficacy and safety of oral alendronate on bone mineral density (BMD) in children and adolescents with osteoporosis

Incidence of Autoimmune Thyroid Disease in Patients with Type 1 Diabetes

INTRODUCTION: In this study, it was aimed to determine the frequency of autoimmune thyroid disease (OITH) in children and adolescent patients who were followed-up with type 1 diabetes mellitus(T1DM) and to evaluate its relationship with other parameters

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

Evaluation of clinical and laboratory findings in the differential diagnosis of central precocious puberty and premature thelarche

Aim: In this study, it was aimed to examine the clinical and laboratory findings that can be used to predict central precocious puberty (CPP) in cases whose breast development started before the age of 8. Materials and Methods: The chronological age, anthropometric measurements, bone age (BA), hormone test results and pelvic ultrasonography findings of the cases were recorded. Those with a peak luteinizing hormone (LH) level of ≥5 IU/L in the gonadotropin-releasing hormone (GnRH) stimulation test were classified as CPP and those with a peak LH level of <5 IU/L were classified as prepubertal cases. A receiver operating characteristic (ROC) analysis was performed to determine the diagnostic accuracy of laboratory variables. Findings: A total of 297 female cases were included in the study. The age at the time of admission, height-standard deviation score (SDS), BA, the long axis of the uterus and the volumes of the right and left ovaries of the cases diagnosed with CPP were found to be significantly higher than those of the prepubertal group. The cut-off value providing the best sensitivity (99%) and specificity (99%) for the peak LH was found to be 4.55; the cut-off value providing the best sensitivity (94%) and specificity (85%) for the peak LH/follicle-stimulating hormone (FSH) ratio was found to be 0.32 and the cut-off value providing the best sensitivity (47%) and specificity (93%) for the basal LH was found to be 0.13. Conclusion: We believe that in female cases with early breast development, a peak LH level of ≥4.55 may possibly indicate CPP and a basal LH level of <0.13 can significantly rule out CPP

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