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International Journal of Pediatric Endocrinology

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https://www.readbyqxmd.com/read/29075301/insulinoma-masquerading-as-a-loss-of-consciousness-in-a-teenage-girl-case-report-and-literature-review
#1
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
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#2
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
https://www.readbyqxmd.com/read/29026407/congenital-hypothyroidism-insights-into-pathogenesis-and-treatment
#3
REVIEW
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
https://www.readbyqxmd.com/read/29021809/erratum-to-appraisal-of-testicular-volumes-volumes-matching-ultrasound-values-referenced-to-stages-of-genital-development
#4
Juan F Sotos, Naomi J Tokar
[This corrects the article DOI: 10.1186/s13633-017-0046-x.].
2017: International Journal of Pediatric Endocrinology
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/28785287/novel-compound-heterozygous-asxl3-mutation-causing-bainbridge-ropers-like-syndrome-and-primary-igf1-deficiency
#6
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
https://www.readbyqxmd.com/read/28725240/appraisal-of-testicular-volumes-volumes-matching-ultrasound-values-referenced-to-stages-of-genital-development
#7
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
https://www.readbyqxmd.com/read/28592974/clitoral-size-in-term-newborns-in-kumasi-ghana
#8
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
https://www.readbyqxmd.com/read/28588625/change-in-bmi-after-radioactive-iodine-ablation-for-graves-disease
#9
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
https://www.readbyqxmd.com/read/28261275/erratum-to-a-randomized-pilot-trial-of-growth-hormone-with-anastrozole-versus-growth-hormone-alone-starting-at-the-very-end-of-puberty-in-adolescents-with-idiopathic-short-stature
#10
Anya Rothenbuhler, Agnès Linglart, Pierre Bougnères
[This corrects the article DOI: 10.1186/1687-9856-2015-4.].
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28149309/deferring-surgical-treatment-of-ambiguous-genitalia-into-adolescence-in-girls-with-21-hydroxylase-deficiency-a-feasibility-study
#11
Pierre Bougnères, Claire Bouvattier, Maryse Cartigny, Lina Michala
BACKGROUND: Genital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence. METHODS: We followed up girls with 21 hydroxylase deficiency (21- OHD) in genital morphology during childhood and acceptability among patients and parents of such an approach...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28149308/normative-penile-anthropometry-in-term-newborns-in-kumasi-ghana-a-cross-sectional-prospective-study
#12
Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine, Samuel Blay Nguah
BACKGROUND: Genital measurements are a useful adjunct in the early detection of various endocrine conditions including hypopituitarism and disorders of sexual differentiation. Standards for genital sizes have been published but racial/ethnic differences exist. This study was done to establish norms for genital sizes in term Ghanaian male 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...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28138333/short-stature-and-hypoparathyroidism-in-a-child-with-kenny-caffey-syndrome-type-2-due-to-a-novel-mutation-in-fam111a-gene
#13
Mary B Abraham, Dong Li, Dave Tang, Susan M O'Connell, Fiona McKenzie, Ee Mun Lim, Hakon Hakonarson, Michael A Levine, Catherine S Choong
BACKGROUND: Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and short stature diagnosed with Kenny-Caffey syndrome (KCS) Type 2 and the subsequent response to growth hormone (GH) treatment. CASE PRESENTATION: The proband presented in the neonatal period with hypocalcemic seizures secondary to hypoparathyroidism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27891155/rabson-mendenhall-syndrome-caused-by-a-novel-missense-mutation
#14
Krishnapradeep Sinnarajah, M B K C Dayasiri, N D W Dissanayake, S T Kudagammana, A H H M Jayaweera
BACKGROUND: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach. CASE PRESENTATION: An 11 year old boy presented with polyuria and polydipsia...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#15
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27799945/the-influence-of-a-long-term-growth-hormone-treatment-on-lipid-and-glucose-metabolism-a-randomized-trial-in-short-japanese-children-born-small-for-gestational-age
#16
Reiko Horikawa, Toshiaki Tanaka, Hiromi Nishinaga, Yoshihisa Ogawa, Susumu Yokoya
BACKGROUND: Long-term growth hormone (GH) treatments in short children born small for gestational age (SGA) restore lipid metabolism, but also increase insulin resistance. The aim of this study was to evaluate the influence of long-term GH therapy on lipid and glucose metabolism as well as its dose dependency in short Japanese children born SGA. METHODS: Eighty Japanese children with a short stature who were born SGA participated in this study; 65 were treated with fixed GH doses of 0...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27766107/case-report-recurrent-abdominal-symptoms-in-a-child-with-panhypopituitarism-there-is-always-a-differential
#17
Laura Olbrich, Eva Schmidt, Ertan Mayatepek, Markus Vogel
BACKGROUND: We report the case of a 6 year old boy suffering from adenohypophysis aplasia as well as ectopic neurohypophysis and delayed diagnosis of familial Mediterranean fever (FMF). CASE PRESENTATION: The boy was diagnosed with panhypopituitarism during the neonatal period and suffered from recurrent episodes during the following years suggesting infections. He also showed signs of adrenal insufficiency. Finally, at the age of 6 years, an additional diagnosis of familial Mediterranean fever (FMF) was clinically suspected and later confirmed by molecular analysis...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27688786/differential-effects-of-hydrocortisone-prednisone-and-dexamethasone-on-hormonal-and-pharmacokinetic-profiles-a-pilot-study-in-children-with-congenital-adrenal-hyperplasia
#18
Todd D Nebesio, Jamie L Renbarger, Zeina M Nabhan, Sydney E Ross, James E Slaven, Lang Li, Emily C Walvoord, Erica A Eugster
BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI)...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27605984/delayed-methimazole-induced-agranulocytosis-in-a-6-year-old-patient-with-graves-disease
#19
Vidya Puthenpura, Kinjal Desai, Andrew Bauer, Ian Marshall
BACKGROUND: Agranulocytosis is regarded as a rare side effect of methimazole (MMI) therapy that occurs in a dose dependent manner and that usually develops within the first 3-6 months of treatment. Although delayed development beyond this timeline has been documented in adults, very few children have been reported with this presentation. CASE PRESENTATION: We present a 6-year old patient who developed agranulocytosis 18 months after the start of MMI therapy. CONCLUSIONS: This is an unusual case of a 6-year old patient who developed this serious side effect on stable MMI therapy well beyond the typical timeline...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27499763/body-mass-index-in-girls-with-idiopathic-central-precocious-puberty-during-and-after-treatment-with-gnrh-analogues
#20
A J Arcari, M G Gryngarten, A V Freire, M G Ballerini, M G Ropelato, I Bergadá, M E Escobar
BACKGROUND: In girls with Idiopathic Central Precocious Puberty (ICPP) concern has been raised by the potential impact of GnRH-analogues (GnRHa) treatment on body weight. We evaluated the effect of GnRHa on Body Mass Index (BMI) in girls with ICPP according to weight status at diagnosis. METHODS: One hundred seventeen ICPP girls were divided according to pretreatment weight status in: normal weight (NW), overweight (OW) and obese (OB). BMI at one and two years of treatment was assessed...
2016: International Journal of Pediatric Endocrinology
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