Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation. The two cases with mutations in the distal enhancer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analyses showed that these mutations can decrease expression of PTF1A which is involved in pancreas development. Both patients were born small for gestational age to consanguineous parents. Both were treated with insulin and pancreatic enzymes. One of these patients’ fathers was also homozygous for the PTF1A mutation, whilst his partner and the parents of the other patient were heterozygous carriers. In the case with DEND sydrome, a previosly reported heterozygous KCNJ11 mutation, p.Cys166Tyr (c.497G>A), was identified. This patient was born to nonconsanguineous parents with normal birth weight. The majority of neonatal diabetes patients with KCNJ11 mutations will respond to sulphonylurea treatment. Therefore Glibenclamide, an oral antidiabetic of the sulphonylurea group, was started. This treatment regimen relatively improved blood glucose levels and neurological symptoms in the short term. Because we could not follow the patient in the long term, we are not able to draw conclusions about the efficacy of the treatment. Although neonatal diabetes mellitus can be diagnosed clinically, genetic analysis is important since it is a guide for the treatment and for prognosis.This article is freely available via Open Acces

Childhood Asymmetric Labium Majus Enlargement: Is a Conservative Approach Available?

PubMed: 19345909Unilateral vulva swelling during prepubertal period consists of a wide variety of inflammatory and neoplastic lesions. A group of labial lesions that showed normal radiologic, histopathologic and surgical findings are reported as childhood asymmetric labium majus enlargement. An 11-year-old girl with childhood asymmetric labium majus enlargement is presented to discuss the clinicopathologic features, differential diagnosis, and indications of conservative approach in the treatment of this rare entity. © 2009 North American Society for Pediatric and Adolescent Gynecology

Wolff-Chaikoff effect in a newborn: is it an overlooked problem?

PubMed: 17161170Hypothyroidism is a serious endocrine disorder emerging from deficient production of thyroid hormone (thyroid gland agenesis or dysgenesis, or inborn metabolic defects of thyroid hormone production) or a defect in thyroid hormonal receptor activity. Prevention of iodine organification by means of using iodine-containing drugs or solutions is a protective mechanism for the body and is known as the Wolff-Chaikoff effect. This effect blocks thyroid hormone generation and is often transient, with thyroid hormone synthesis recovering in a few days or weeks. We present a neonate with transient thyroid dysfunction resulting from topical exposure to iodine-containing antiseptic solution. Our aim was to increase awareness that the use of antiseptic iodine solutions in neonates may result in transient hypothyroidism through the Wolff-Chaikoff effect and should be considered after the use of iodine-containing solutions or drugs. © 2006 Elsevier Inc. All rights reserved

Neonatal effects of thyroid diseases in pregnancy and approach to the infant with increased TSH: Turkish neonatal and pediatric endocrinology and diabetes societies consensus report

Thyroid functions in the fetus and newborn carry importance in terms of the baby’s health and development of the central nervous system. Maternal iodine 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 immediately after delivery. Investigation of the mother in terms of thyroid diseases during pregnancy, recognition and appropriate assessment of the required conditions, screening of all newborns in the first days of life in terms of congenital hypothyroidism, timely and appropriate evaluation of the screening results, early diagnosis and appropriate treatment of cases of congenital hypothyroidism, assessment and management of cases of transient thyroid hormone disorders and close monitoring of the thyroid functions and development of patients in whom treatment has been initiated with a diagnosis of hypothyroidism are crucial in terms of developmental outcomes of the babies who have thyroid function disorders or hypothyroidism. This guideline was written with the objective of guiding pediatricians, neonatologists and pediatric endocrinologists in the issue of assessment, diagnosis and management of thyroid function disorders and thyroid diseases concerning the fetus and baby during gestation and neonatal period. © Copyright 2018 by Turkish Pediatric Association