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pediatric endocrine

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13 papers 0 to 25 followers
https://www.readbyqxmd.com/read/29201068/gender-identity-in-patients-with-congenital-adrenal-hyperplasia
#1
Maryam Razzaghy-Azar, Sakineh Karimi, Elham Shirazi
Background: Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. Objectives: The study aimed to assess gender identity in patients with CAH. Methods: In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#2
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
November 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29084833/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome
#3
(no author information available yet)
No abstract text is available yet for this article.
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29094512/genetics-of-type-1-diabetes
#4
REVIEW
Maria J Redondo, Andrea K Steck, Alberto Pugliese
Type 1 diabetes (T1D) results from immune-mediated loss of pancreatic beta cells leading to insulin deficiency. It is the most common form of diabetes in children, and its incidence is on the rise. This article reviews the current knowledge on the genetics of T1D. In particular, we discuss the influence of HLA and non-HLA genes on T1D risk and disease progression through the preclinical stages of the disease, and the development of genetic scores that can be applied to disease prediction. Racial/ethnic differences, challenges and future directions in the genetics of T1D are also discussed...
November 2, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28855921/diagnosis-and-treatment-of-hyperinsulinaemic-hypoglycaemia-and-its-implications-for-paediatric-endocrinology
#5
REVIEW
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
https://www.readbyqxmd.com/read/28614036/an-individualized-approach-to-the-evaluation-of-cushing-syndrome
#6
REVIEW
Susmeeta T Sharma
Cushing syndrome (CS) is caused by chronic exposure to excess glucocorticoids. Early recognition and treatment of hypercortisolemia can lead to decreased morbidity and mortality. The diagnosis of CS and thereafter, establishing the cause can often be difficult, especially in patients with mild and cyclic hypercortisolism. Surgical excision of the cause of excess glucocorticoids is the optimal treatment for CS. Medical therapy (steroidogenesis inhibitors, medications that decrease adrenocorticotropic hormone [ACTH] levels or glucocorticoid antagonists) and pituitary radiotherapy may be needed as adjunctive treatment modalities in patients with residual, recurrent or metastatic disease, in preparation for surgery, or when surgery is contraindicated...
June 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#7
REVIEW
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28809093/caregiving-for-children-with-type-1-diabetes-and-clinical-outcomes-in-central-india-the-idream-study
#8
Greta Friedemann-Sánchez, Benjamin D Capistrant, James Ron, Lindsey Novak, Caroline Zuijdwijk, Graham D Ogle, Barbara Anderson, Antoinette Moran, Sharad Pendsey
AIMS: Parental care influences outcomes for children's type 1 diabetes (T1D). There is little evidence about the impact of parental caregiving in developing countries, where fixed dose human insulin (conventional) therapy and limited self-monitoring of blood glucose are common. This article investigates whether performance of key T1D management tasks by children or their caregivers impacts hemoglobin A1c (HbA1c). METHODS: We surveyed the caregivers of 179 children with T1D routinely treated in a specialized diabetes clinic in Maharashtra, India to determine who performs key diabetes care tasks: child or parent...
August 15, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28576284/congenital-adrenal-hyperplasia
#9
REVIEW
Diala El-Maouche, Wiebke Arlt, Deborah P Merke
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentation of hirsutism and irregular menses...
November 11, 2017: Lancet
https://www.readbyqxmd.com/read/28381450/management-of-endocrine-disease-pathogenesis-and-management-of-hypoglycemia
#10
REVIEW
Nana Esi Kittah, Adrian Vella
Glucose is the main substrate utilized by the brain and as such multiple regulatory mechanisms exist to maintain glucose concentrations. When these mechanisms fail or are defective, hypoglycemia ensues. Due to these robust mechanisms, hypoglycemia is uncommon and usually occurs in the setting of the treatment of diabetes using glucose-lowering agents such as sulfonylureas or insulin. The symptoms of hypoglycemia are non-specific and as such it is important to confirm hypoglycemia by establishing the presence of Whipple's triad before embarking on an evaluation for hypoglycemia...
July 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27753189/congenital-hypoglycemia-disorders-new-aspects-of-etiology-diagnosis-treatment-and-outcomes-highlights-of-the-proceedings-of-the-congenital-hypoglycemia-disorders-symposium-philadelphia-april-2016
#11
Diva D De Leon, Charles A Stanley
Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (HI) is the most common and severe cause of persistent hypoglycemia in neonates and children. Recent discoveries of the genetic causes of HI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype...
February 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/26966265/how-well-does-the-capillary-thyroid-stimulating-hormone-test-for-newborn-thyroid-screening-predict-the-venous-free-thyroxine-level
#12
Tzveta Pokrovska, Jeremy Jones, M Guftar Shaikh, Sarah Smith, Malcolm D C Donaldson
OBJECTIVES: To determine, in newborn infants referred with elevated capillary thyroid-stimulating hormone (TSH), a threshold below which a frankly subnormal venous free thyroxine (fT4) level of <10 pmol/L is unlikely, so that treatment with levo-thyroxine (L-T4) might be deferred until venous thyroid function tests (TFTs) become available. SUBJECTS AND METHODS: All infants referred in Scotland since 1979 with capillary TSH elevation were studied, with particular focus on infants screened using the AutoDELFIA assay between 2002 and 2013...
June 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/26578640/mechanisms-in-endocrinology-novel-genetic-causes-of-short-stature
#13
REVIEW
Jan M Wit, Wilma Oostdijk, Monique Losekoot, Hermine A van Duyvenvoorde, Claudia A L Ruivenkamp, Sarina G Kant
The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature...
April 2016: European Journal of Endocrinology
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