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International Journal of Pediatric Endocrinology

Saartje Straetemans, Muriel Thomas, Margarita Craen, Raoul Rooman, Jean De Schepper
Background: There is no consensus on the definition of poor growth response after the first year of growth hormone (GH) treatment. We determined the proportion of poor responders identified by different criteria in children with GH deficiency (GHD) and born small for gestational age (SGA). The second aim was to analyze the IGF-1 response in poor growth responders. Methods: First-year height data of 171 SGA and 122 GHD children who remained prepubertal during the first GH treatment year were retrieved from the BESPEED database and analyzed...
2018: International Journal of Pediatric Endocrinology
Munier A Nour, Hardave Gill, Prosanta Mondal, Mark Inman, Kristine Urmson
Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of primary adrenal insufficiency in children. Current guidelines recommend the use of perioperative stress dose (supraphysiologic) glucocorticoids for children with CAH undergoing anesthesia, although a perceived difference in practice patterns among Canadian pediatric subspecialists prompted an assessment of perioperative glucocorticoid administration. Methods: We performed a cross-sectional survey of Canadian Pediatric Anesthesia Society (CPAS) and Canadian Pediatric Endocrine Group (CPEG) members via membership email lists to assess reported practice patterns to select clinical scenarios...
2018: International Journal of Pediatric Endocrinology
Yasmin Akhtar, Angela Verardo, Janet L Crane
Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis. Case Presentation: Twelve year old female presented with altered mental status that self-resolved and hypoglycemia. Laboratory evaluation revealed pituitary dysfunction with central hypothyroidism and adrenal insufficiency in the setting of hyperprolactinemia...
2018: International Journal of Pediatric Endocrinology
Inderpal Singh Kochar, Aashish Sethi
Background: Insulin Degludec (IDeg) is a new ultra-long-acting basal insulin that has not been yet evaluated in Indian pediatric population. We aim to evaluate the efficacy and safety of IDeg as basal-bolus therapy in Indian pediatric patients affected by type 1 diabetes mellitus (T1DM). Methods: A total of 30 pediatric and adolescent patients (17 boys, 13 girls; 22 were pre-pubertal) with T1DM who were on IDeg once daily participated in the study. All the patients received IDeg for at least 26 weeks along with rapid-acting mealtime insulin and their pre- and post-baseline characteristics (anthropometric data (BMI), age, duration of diabetes), metabolic (HbA1C), insulin requirement (unit/kg body weight per day) and number of hypoglycemia episodes were recorded along with the daily self-monitoring of blood glucose...
2018: International Journal of Pediatric Endocrinology
Lina Huerta-Saenz, Carol Saunders, Yun Yan
Background: Congenital hyperinsulinism (CHI) is the leading cause of persistent hypoglycemia in infants. The infants of diabetic mothers (IDMs) very frequently present with neonatal hypoglycemia associated to transient hyperinsulinism however the incidence of CHI in IDMs is unknown. Case presentation: Here we report 2 cases of CHI where the diagnoses were challenged and delayed because both patients were infants of diabetic mothers (IDMs) and had concomitant complicated medical conditions...
2018: International Journal of Pediatric Endocrinology
Louise Apperley, Urmi Das, Renuka Ramakrishnan, Poonam Dharmaraj, Jo Blair, Mohammed Didi, Senthil Senniappan
Background: Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features. The aim of the study was to determine the age and clinical features at the time of presentation and to identify potential delays in diagnosis of TS. Methods: Retrospective data on age at diagnosis, reason for karyotype analysis and presenting clinical features was collected from the medical records of 67 girls with TS...
2018: International Journal of Pediatric Endocrinology
Hussain Alsaffar, Lucy Turner, Zoe Yung, Mohammed Didi, Senthil Senniappan
Background: The factory calibrated FreeStyle Libre (FSL) flash glucose monitoring system has been recently introduced for use in patients with diabetes mellitus. There are no reports available regarding its use in patients with congenital hyperinsulinism (CHI). We have assessed the accuracy of FSL compared to the finger prick capillary blood glucose (CBG) over 2 weeks period in patients with CHI and evaluated the parents' experience of using FSL. Methods: Four hundred sixty-seven episodes of CBG along with corresponding swipe FSL readings were available from 11 children with CHI (0...
2018: International Journal of Pediatric Endocrinology
Karen M Rothacker, Katie L Ayers, Dave Tang, Kiranjit Joshi, Jocelyn A van den Bergen, Gorjana Robevska, Naeem Samnakay, Lakshmi Nagarajan, Kate Francis, Andrew H Sinclair, Catherine S Choong
Background: Desert hedgehog ( DHH ) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herein we report a novel, homozygous mutation of DHH identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis. This novel mutation is two amino acids away from a previously described mutation in a patient who presented with complete gonadal dysgenesis...
2018: International Journal of Pediatric Endocrinology
I Caroline van Nieuwpoort, Jos W R Twisk, Leopold M G Curfs, Paul Lips, Madeleine L Drent
Background: In patients with Prader-Willi syndrome (PWS) body composition is abnormal and alterations in appetite regulating factors, bone mineral density and insulin-like growth factor-1 (IGF-1) levels have been described. Studies in PWS adults are limited. In this study, we investigated body composition, appetite regulating peptides, bone mineral density and markers of bone remodeling in an adult PWS population. Furthermore, we investigated the association between these different parameters and IGF-1 levels because of the described similarities with growth hormone deficient patients...
2018: International Journal of Pediatric Endocrinology
Juan F Sotos, Naomi J Tokar
The determination of the testicular volume is of considerable importance to assess the onset, progression and disorders of puberty, abnormal testicular development, and a number of other conditions; and in adults, assessment of fertility. A number of clinical methods have been used for the measurement of testicular volumes in the scrotum: a centimeter ruler, sliding calipers, and orchidometers. All the clinical methods calculate the volumes by the ellipsoid equation, grossly overestimate ultrasound (US) volumes by 70 to 80% for adults, to 150 to 250% for prepubertal subjects, mainly because the inclusion of the scrotal skin and epididymis and may not be accurate of reproducible...
2017: International Journal of Pediatric Endocrinology
Meghana Gudala, Mahmuda Ahmed, Rushika Conroy, Ksenia Tonyushkina
BACKGROUND: Hypoglycemia due to a pancreatic beta cell neoplasm - insulinoma, is uncommon with only a few cases described. We report on a previously healthy 15-year-old Hispanic female with insulinoma who presented with a loss of consciousness due to hypoglycemia unawareness. CASE PRESENTATION: EM was first brought to the emergency department (ED) after she was found unresponsive at home with point of care (POC) glucose of 29 mg/dL(1.6 mmol/L) documented by emergency medical services (EMS) upon arrival...
2017: International Journal of Pediatric Endocrinology
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
Christine E Cherella, Ari J Wassner
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks posed by mild congenital hypothyroidism, highlighting the need for additional research to further define what risks these patients face and whether they are likely to benefit from treatment...
2017: International Journal of Pediatric Endocrinology
Juan F Sotos, Naomi J Tokar
[This corrects the article DOI: 10.1186/s13633-017-0046-x.].
2017: International Journal of Pediatric Endocrinology
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
Dinesh Giri, Daniel Rigden, Mohammed Didi, Matthew Peak, Paul McNamara, Senthil Senniappan
BACKGROUND: De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. CASE PRESENTATION: We describe, for the first time, a patient with severe short stature, learning difficulties, feeding difficulties and dysmorphic features with a novel compound heterozygous mutation in ASXL3...
2017: International Journal of Pediatric Endocrinology
Juan F Sotos, Naomi J Tokar
BACKGROUND: Testicular volumes obtained with orchidometers or external linear measurements in the scrotum (centimeter ruler or calipers) grossly over-estimate ultrasound volumes, have much variability and may not be accurate or reproducible. The reference of the values obtained by orchidometers or US, to age or Tanner stages is not useful to determine the normal values for stages of puberty, because overlapping of ages and values. Pubertal development is determined by two events, genital and pubic hair development, that should be analyzed independently because one could be out of step with the other...
2017: International Journal of Pediatric Endocrinology
Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine, Margaret Zacharin, Samuel Blay Nguah
BACKGROUND: Data on normative clitoral sizes in newborns is relatively sparse and racial/ethnic differences have also been reported. This study was performed to establish norms for clitoral size in term Ghanaian female newborns. METHODS: This was a cross-sectional study of all apparently well full-term newborns of postnatal age < 48 h and birth weight between 2.5 and 4.0 kg delivered at Komfo Anokye Teaching Hospital between May and September, 2014. Anthropometric and genital parameters were documented for study subjects as well as parental socio-demographic indices...
2017: International Journal of Pediatric Endocrinology
Melinda Chen, Matthew Lash, Todd Nebesio, Erica Eugster
BACKGROUND: We aimed to determine the extent of post-treatment weight gain that occurs in pediatric patients in the first year following radioactive iodine (RAI) therapy for Graves disease (GD) and its relationship to clinical characteristics. METHODS: A retrospective chart review of patients receiving RAI therapy for GD between 1998-2015 was performed. Change in BMI SDS (∆BMI SDS) from baseline to one year after treatment was determined. We also investigated whether individual clinical and/or biochemical factors were associated with the weight trajectory in these patients...
2017: International Journal of Pediatric Endocrinology
Anya Rothenbuhler, Agnès Linglart, Pierre Bougnères
[This corrects the article DOI: 10.1186/1687-9856-2015-4.].
2017: International Journal of Pediatric Endocrinology
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