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neonatal endocrinology

S Sudhanshu, I Riaz, R Sharma, M P Desai, R Parikh, V Bhatia
The Indian Society for Pediatric and Adolescent Endocrinology has formulated Clinical Practice Guidelines for newborn screening, diagnosis and management of congenital hypothyroidism (CH). This manuscript, part II addresses management and follow-up. RECOMMENDATIONS: Screening should be done for every newborn using cord blood, or postnatal blood ideally at 48 to 72 h of age. Neonates with screen TSH > 20 mIU/L serum units (or >34 mIU/L for samples taken between 24 and 48 h of age) should be recalled for confirmation...
February 17, 2018: Indian Journal of Pediatrics
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
M P Desai, R Sharma, I Riaz, S Sudhanshu, R Parikh, V Bhatia
The Indian Society for Pediatric and Adolescent Endocrinology has formulated locally relevant Clinical Practice Guidelines for newborn screening, diagnosis and management of primary congenital hypothyroidism (CH). RECOMMENDATIONS: Screening should be done for every newborn using cord blood, or postnatal blood, ideally at 48 to 72 h of age. On this screen sample, neonates with TSH > 20 mIU/L serum units (or >34 mIU/L for samples taken between 24 to 48 h of age) should be recalled for confirmation...
January 30, 2018: Indian Journal of Pediatrics
Lyvonne N Tume, Reinis Balmaks, Eduardo da Cruz, Lynne Latten, Sascha Verbruggen, Frédéric V Valla
OBJECTIVES: To describe enteral feeding practices in pre and postoperative infants with congenital heart disease in European PICUs. DESIGN: Cross-sectional electronic survey. SETTING: European PICUs that admit infants with congenital heart disease pre- and postoperatively. PARTICIPANTS: One senior PICU physician or designated person per unit. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Fifty-nine PICUs from 18 European countries responded to the survey...
February 2018: Pediatric Critical Care Medicine
Rika Kosaki, Reiko Horikawa, Eriko Fujii, Kenjiro Kosaki
Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). To date, all reported patients with LARS2 mutations (15 patients in 8 families) have been classified as type 1...
February 2018: American Journal of Medical Genetics. Part A
Zeynep Şıklar, Elisa de Franco, Matthew B Johnson, Sarah E Flanagan, Sian Ellard, Serdar Ceylaner, Kaan Boztuğ, Figen Doğu, Aydan İkincioğulları, Zarife Kuloğlu, Aydan Kansu, Merih Berberoğlu
Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case can be classified into those 2 groups. We evaluated patients with monogenic diabetes diagnosed during the last 10 year period. Type 1 DM, MODY, and patients with negative autoantibodies and no mutation in a known gene were excluded from the study...
November 28, 2017: Experimental and Clinical Endocrinology & Diabetes
Ana Paula Dassie-Leite, Mara Behlau, Suzana Nesi-França, Monica Nunes Lima, Luiz de Lacerda
OBJECTIVE: To evaluate the vocal characteristics of a group of children with congenital hypothyroidism (CH) and the association of these characteristics with the children's clinical, laboratory, and therapeutic profiles. MATHERIAL AND METHODS: Observational, analytical, cross-sectional study including 200 prepubertal children, of whom 100 had CH (study group [SG]) and 100 had no CH (control group [CG]). The following parameters were evaluated: 1) history (identification, complaints, and interfering variables), 2) auditory-perceptual and acoustic evaluation (samples analyzed by a group of specialists, and objectively by a computer program), 3) self-assessment scores in the Pediatric Voice-Related Quality-of-Life (PVRQoL) survey, 4) laryngological evaluation (presence or absence of laryngeal lesions and data regarding glottal closure), and 5) medical records (CH etiology, age at treatment initiation, disease severity at diagnosis, treatment quality, and thyroid function tests on the day of the examination)...
October 3, 2017: Journal of Voice: Official Journal of the Voice Foundation
Sachin Chittawar, Deep Dutta, Deepak Khandelwal, Rajiv Singla
This review highlights pitfalls and challenges in interpreting neonatal hormone reports. Pre-analytical errors contribute to nearly 50% of all errors. Modern chemiluminescence assay are more accurate, have lower risk of Hook's effect, but continue to have problems of assay interference. Liquid chromatography mass spectroscopy is gold standard for most hormone assays. Neonatal hypoglycemia diagnostic cut-offs are lower than adults. Random growth hormone testing is of value in diagnosing growth hormone deficiency in neonates...
September 15, 2017: Indian Pediatrics
Suma Uday, Ardita Kongjonaj, Magda Aguiar, Ted Tulchinsky, Wolfgang Högler
BACKGROUND: Nutritional rickets is a growing global public health concern despite existing prevention programmes and health policies. We aimed to compare infant and childhood vitamin D supplementation policies, implementation strategies and practices across Europe and explore factors influencing adherence. METHODS: European Society for Paediatric Endocrinology Bone and Growth Plate Working Group members and other specialists completed a questionnaire on country-specific vitamin D supplementation policy and child health care programmes, socioeconomic factors, policy implementation strategies and adherence...
November 2017: Endocrine Connections
Ayşe Derya Buluş, Esra Tiftik
BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
Huseyin Demirbilek, Sofia A Rahman, Gonul Gulal Buyukyilmaz, Khalid Hussain
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia...
2017: International Journal of Pediatric Endocrinology
F F Bartol, A A Wiley, A F George, D J Miller, C A Bagnell
Maternal effects on development can program cell fate and dictate offspring phenotype. Such effects do not end at birth, but extend into postnatal life through signals communicated from mother to offspring in first milk (colostrum). Transmission of bioactive factors from mother to offspring as a specific consequence of nursing defines a lactocrine mechanism. The female reproductive tract is not fully formed at birth (postnatal day = PND 0). Data for ungulates and mice indicate that disruption of development during neonatal life can have lasting effects on the form and function of uterine tissues...
May 2017: Journal of Animal Science
C O Lemley, K A Vonnahme
Compromised placental function can result in fetal growth restriction which is associated with greater risk of neonatal morbidity and mortality. Large increases in transplacental nutrient and waste exchange, which support the exponential increase in fetal growth during the last half of gestation, are dependent primarily on the rapid growth and vascularization of the uteroplacenta. The amplitude of melatonin secretion has been associated with improved oxidative status and altered cardiovascular function in several mammalian species; however, melatonin mediated alterations of uteroplacental capacity in sheep and cattle are lacking...
May 2017: Journal of Animal Science
Ahmet Ozdemir, Sabriye Korkut, Selim Kurtoglu, Nihal Hatipoglu, Tamer Gunes, Mehmet Adnan Ozturk
OBJECTIVES: To identify endocrinologic problems, particularly those concerning growth, in collodion babies (CBs). METHODS: Clinically identified newborn CBs were included in the study group (group 1). Because CBs are generally born premature, small for gestational age (SGA), or both, a control group matched to the study group in terms of gestational age and birthweight (group 2) was also established. Blood specimens were collected from both groups for thyroid function tests and to measure serum growth hormone (GH), insulinlike growth factor 1 (IGF-1) and IGF binding protein-3 (IGFBP-3) levels...
May 2017: Pediatric Dermatology
Larry Hinkson, Robert Armbrust, Annika Möller, Wolfgang Henrich
The incidence of preeclampsia associated maternal and neonatal hyponatremia is reportedly rare and can be life threatening in severe cases. The timely diagnosis and careful management requires a multidisciplinary approach between obstetric, neonatal, endocrinology, and intensive care teams. We report firstly, on a case of severe hyponatremia associated with preeclampsia, secondary to inappropriate Anti-Diuretic Hormone secretion, followed by a review of cases over a one year period at our institution.
May 31, 2017: Journal of Maternal-fetal & Neonatal Medicine
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
Manuel H Aguiar-Oliveira, Anita H O Souza, Carla R P Oliveira, Viviane C Campos, Luíz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in northeast Brazil, carrying a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3 and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice and visceral obesity with reduced fat-free mass...
August 2017: European Journal of Endocrinology
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications. Objective: The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy. Design, Setting, and Patients: This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
Simone Macrì
Neonatal experiences exert persistent influences on individual development. These influences encompass numerous domains including emotion, cognition, reactivity to external stressors and immunity. The comprehensive nature of the neonatal programming of individual phenotype is reverberated in the large amount of experimental data collected by many authors in several scientific fields: biomedicine, evolutionary and molecular biology. These data support the view that variations in precocious environmental conditions may calibrate the individual phenotype at many different levels...
February 2017: Neurobiology of Stress
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