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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/29595517/parental-perception-of-terminology-of-disorders-of-sex-development-in-western-turkey-running-head-parental-perception-of-dsd-terminology
#1
Sibel Tiryaki, Ali Tekin, Ismail Yagmur, Samim Özen, Burcu Özbaran, Damla Gökşen, Şükran Darcan, İbrahim Ulman, Ali Avanoğlu
OBJECTIVE: "Disorders of sex development (DSD)" is a nomenclature proposed to defeat the discomfort of families and patients and has found worldwide usage. The aim of this study is addressing the perception and usage of terminology among the parents of DSD patients in a tertiary center in western Turkey. METHODS: The records of the DSD council between years 2008-2015 were reviewed retrospectively and data including details of the management process, patient characteristics and follow-up details were noted...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29595516/a-rare-cause-of-congenital-adrenal-hyperplasia-clinical-and-genetic-findings-and-follow-up-characteristics-of-six-patients-with-17-hydroxylase-deficiency-and-two-novel-mutations
#2
Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş, Zehra Yavaş Abalı, Genco Gençay, Şükran Poyrazoğlu, Rüveyde Bundak, Umut Altunoğlu, Şahin Avcı, Adam Najaflı, Oya Uyguner, Birsen Karaman, Seher Başaran, Feyza Darendeliler
BACKGROUND: 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment of 17-OHD patients. PATIENTS AND METHODS: We evaluated six patients with 17OHD from five families at presentation and at follow up...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29553046/prevalence-and-related-factors-of-euthyroid-sick-syndrome-in-children-with-untreated-cancer-according-to-two-different-criteria
#3
Ali Duyu, Elvan Çağlar Çıtak, Erdem Ak, Serhan Kupeli, Begül Yağcı Küpeli, İbrahim Bayram, Gülay Sezgin, Gülçin Eskendari, Kerem Sezer
OBJECTIVE: In this study, we evaluated the frequency of euthyroid sick syndrome (ESS) among patients with childhood cancer and its association with the stage of disease, nutritional parameters and cytokines levels. METHODS: Eighty newly diagnosed children were included into study. ESS was diagnosed in two different ways:Criteria 1; fT3 was below the lower limit, fT4 was within the normal or low limits, TSH was in normal range and in criteria 2 all the levels were same as criteria 1 but moreover rT3 was performed and was higher than normal limits...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29553045/prospective-follow-up-of-children-with-idiopathic-growth-hormone-deficiency-after-termination-of-gh-treatment-is-there-really-need-for-treatment-at-transition-to-adulthood
#4
Emine Çamtosun, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVES: Continuation of GH treatment in adolescents with severe childhood onset Idiopathic Growth Hormone Deficiency (IGHD) during the transition period, irrespective of achievement of final height is still debatable.We aimed to investigate the metabolic profile, BMD and body composition of the patients with isolated childhood onset GHD in whom GH treatments were terminated after they reached their final height, prospectively six months after the cessation of therapy. METHODS: Twelve patients, 6 of which with peak GH <5 ng/mL (Permanent GHD, Group 1), and 6 of which with peak GH >5 ng/mL (Transient GHD, Group 2) after insulin stimulation test were evaluated for anthropometric and laboratory parameters including fasting blood glucose (FBG), fasting insulin (FI), lipid profile, BMD, body composition measurements, and 24 hours ambulatory blood pressure monitoring before (baseline) and at six months after discontinuation of GH...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29553044/neonatal-features-of-the-prader-willi-syndrome-the-case-for-making-the-diagnosis-during-the-first-week-of-life
#5
Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M Guftar Shaikh, Malcolm Donaldson
OBJECTIVE: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. METHODS: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. RESULTS: Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29553042/a-rare-cause-of-hypothalamic-obesity-rohhad-syndrome-2-cases
#6
Ülkü Gül Şiraz, Deniz Okdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendırcı, Selim Kurtoğlu
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29553041/aromatase-deficiency-due-to-a-novel-mutation-in-cyp19a1-gene
#7
Edip Ünal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
BACKGROUND: Aromatase 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 the pregnancy due to increased concentration of androgens. METHODS AND RESULTS: The-nineteen-month-old girl was assessed due to ambiguous genitalia There were findings of maternal virilization during pregnancy...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537383/abnormal-uterine-bleeding-in-adolescents
#8
Selin Elmaoğulları, Zeyra Aycan
Abnormal uterine bleeding (AUB) is the major gynecologic complaint of adolescents admitting to hospital. Heavy menstrual bleeding (HMB) is the most common clinical presentation of AUB. Anovulatory cycles owing to immature hypothalamic-pituitary-ovarian axis is the leading etiology of HMB and there is an accompanying bleeding disorder in almost %20 of patients with HMB. Additionally, endocrine disorders such as hypothyroidism, hyperprolactinemia and polycystic ovary syndrome (PCOS) are possible causes of AUB...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537382/a-novel-variant-c-97c-t-of-the-growth-hormone-releasing-hormone-receptor-gene-causes-isolated-growth-hormone-deficiency-type-ib
#9
Assimina Galli-Tsinopoulou, Eleni P Kotanidou, Aggeliki N Kleisarchaki, Rivka Kauli, Zvi Laron
Congenital Isolated growth hormone deficiency (IGHD) type Ib is an autosomal recessive genetic condition caused by mutations of GH1 or the GH releasing hormone receptor (GHRH-R) gene. Affected subjects present symptoms of GHD with low but detectable levels of GH, short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low hGH in response to 2 hGH provocative tests and a modest increase of IGF-I to an IGF-I generation test. Whole exome sequencing revealed a novel homozygous variant of the GHRH-R gene (c...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537381/the-importance-of-gestation-adjusted-birthweight-centile-in-assessment-of-fetal-growth-in-metabolic-conditions
#10
Caroline Ovadia, Hanns Ulrich Marschall, Catherine Williamson
No abstract text is available yet for this article.
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537380/resolution-of-consumptive-hypothyroidism-secondary-to-infantile-hepatic-hemangiomatosis-with-combination-propranolol-and-levothyroxine
#11
V Campbell, R Beckett, N Abid, S Hoey
Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype, can in severe cases be associated with hepatic and cardiac failure, compartment syndrome, and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of longterm sequelae. We report an interesting case of a female infant who presented with systemic compromise, in the absence of large or obvious cutaneous infantile hemangiomas (IH). Imaging identified innumerable hepatic hemangiomas, consistent with diffuse infantile hepatic hemangiomatosis...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537379/investigation-of-mkrn3-mutation-in-patients-with-familial-central-precocious-puberty
#12
Zehra Aycan, Şenay Savaş-Erdeve, Semra Çetinkaya, Erdal Kurnaz, Melikşah Keskin, Nursel Muratoğlu Şahin, Elvan Bayramoğlu, Gülay Ceylaner
OBJECTIVE: Little is known about the genetic cause of idiopathic central precocious puberty (CPP). The aim of this clinical study was to determine the rate of MKRN3 mutation in cases of familial idiopathic central precocious puberty. METHODS: Potential sequence variations in the maternally imprinted MKRN3 gene were evaluated in 19 participants from 10 families using next-generation sequencing (NGS) analysis. RESULTS: In the whole group, the novel heterozygous mutation NM_005664...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537378/nationwide-study-of-turner-syndrome-in-children-of-ukraine-analyses-of-the-prevalence-genetic-variants-and-phenotypic-features
#13
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
BACKGROUND: We investigated the prevalence of Turner syndrome (TS) in Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. MATERIAL AND METHODS: A retrospective analyses was made in 538 TS girls aged 0.11-18.2 years old within the period of 2005-2015 with detailed examination of 150 patients. RESULTS AND DISCUSSION: The prevalence of TS in Ukraine is 77...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29537377/effectiveness-of-continuous-subcutaneous-insulin-infusion-pump-therapy-during-five-years-of-treatment-on-metabolic-control-in-children-and-adolescents-with-type-1-diabetes-mellitus
#14
Özlem Korkmaz, Günay Demir, Hafize Çetin, İlkin Mecidov, Yasemin Atik Altınok, Samim Özen, Şükran Darcan, Damla Gökşen
AIM: To compare continuous subcutaneous insulin infusion therapy (CSII) with multiple daily insulin therapy (MDI) on metabolic control in children and adolescents with type 1 diabetes mellitus (T1DM) over the long term. METHOD: 52 T1DM patients treated with CSII and monitored for at least 1 year prior to and at least five years following CSII were included. 38 age and sex-matched MDI controls with a 5-year follow up were recruited. RESULTS: Mean age of the subjects, duration of diabetes and CSII therapy were 17...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29513222/acquired-chiari-i-malformation-secondary-to-spontaneous-intracranial-hypotension-syndrome-and-persistent-hypoglycemia-a-case-report
#15
Hasan Önal, Atilla Ersen, Hakan Gemici, Erdal Adal, Serhat Güler, Serdar Sander, Sait Albayram
Spontaneous intracranial hypotension (SIH) is a rare and potentially serious condition in childhood. Cerebrospinal fluid (CSF) volume depletion is thought to be the main causative feature for intracranial hypotension, results from spontaneous CSF leak, often at the spine level. SIH is increasingly diagnosed in clinical practice, although it manifests into a variegated symptomatology. Indeed, downward displacement of the brain, sometimes mimicking a Chiari I malformation, but concomitant presentation of these syndromes has rarely been reported...
February 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28836496/metachronous-synovial-sarcoma-after-treatment-of-mixed-germ-cell-tumor-in-a-child-with-complete-gonadal-dysgenesis
#16
Feryal Karahan, Elvan Caglar Citak, Emel Yaman, Mehmet Alakaya, Fatih Sağcan, Eda Bengi Yılmaz, Funda Kuş, İclal Gürses, Yüksel Balcı
Patients with complete XY gonadal dysgenesis (GD) show a high predisposition to germ cell tumors (GCT). Patients with coexistence of GCT and GD have been reported previously. Here we present a 15-year-old girl with mixed GCT and GD who also developed an intra-abdominal synovial sarcoma one year after the treatment. This is the first report, to our knowledge, of synovial sarcoma associated with XY GD.
March 1, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28766503/could-alerting-physicians-for-low-alkaline-phosphatase-levels-be-helpful-in-early-diagnosis-of-hypophosphatasia
#17
Asma Deeb, Abubaker Elfatih
OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a diagnostic test. Unlike high ALP, low level is commonly not flagged by laboratories as abnormal. A new treatment was shown to be effective in HPP. In this study we aimed to establish the frequency of low ALP levels requiring notification to physicians by the laboratory and also to describe the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP...
March 1, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739554/46-xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-type-3-deficiency-in-an-infant-of-greek-origin
#18
Assimina Galli-Tsinopoulou, Anastasios Serbis, Eleni P Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
17-beta hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to varying degrees of undervirilization of the affected male, ranging from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias...
March 1, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280746/congenital-hyperinsulinism-diagnosis-and-treatment-update
#19
Hüseyin Demirbilek, Khalid Hussain
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms leading to congenital HH...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280745/sex-assignment-in-conditions-affecting-sex-development
#20
Renata Markosyan, S Faisal Ahmed
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of sex development (DSD), the natural history of conditions, as well as the short and long-term complications of these conditions themselves, together with the clinical interventions that are associated with these conditions. With this information, the DSD expert can be more confident when discussing options with the parents of the newborn infant...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
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