journal
Journals International Journal of Pedia...

International Journal of Pediatric Endocrinology

https://read.qxmd.com/read/32002020/van-wyk-grumbach-syndrome-in-a-female-pediatric-patient-with-trisomy-21-a-case-report
#21
Jyotsna Gupta, Karen Lin-Su
BACKGROUND: Children with hypothyroidism typically present with delayed growth and development, but on rare occasions can present with signs of precocious puberty. This presentation is called Van Wyk-Grumbach syndrome. Van Wyk-Grumbach syndrome has seldom been described in patients with trisomy 21. CASE PRESENTATION: We present the case of a 4-year-old girl with trisomy 21, who recently moved to the United States from Guyana, and presented to the emergency room with recurrent vaginal bleeding...
2020: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31938033/a-novel-de-novo-partial-xq-duplication-in-a-girl-with-short-stature-nonverbal-learning-disability-and-diminished-ovarian-reserve-effect-of-growth-hormone-treatment-and-fertility-preservation-strategies-a-case-report-and-up-to-date-review
#22
Francesca Parissone, Mairi Pucci, Emanuela Meneghelli, Orsetta Zuffardi, Rossana Di Paola, Stefano Zaffagnini, Massimo Franchi, Elisabetta Santangelo, Gaetano Cantalupo, Paolo Cavarzere, Franco Antoniazzi, Giorgio Piacentini, Rossella Gaudino
Background: Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. Sometimes short stature and diminished ovarian reserve (DOR) may be present. Treatments with rGH (Recombinant growth Hormon) or with fertility preservation strategies have not been previously described. Case presentation: We present the case of a female with a novel de novo Xq partial duplication (karyotype: 46,Xder(X)(qter→q21...
2020: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31889957/the-role-of-delayed-bone-age-in-the-evaluation-of-stature-and-bone-health-in-glucocorticoid-treated-patients-with-duchenne-muscular-dystrophy
#23
JOURNAL ARTICLE
E J Annexstad, J Bollerslev, J Westvik, A G Myhre, K Godang, I Holm, M Rasmussen
Background: Low bone mineral density and an increased risk of appendicular and vertebral fractures are well-established consequences of Duchenne muscular dystrophy (DMD) and the risk of fractures is exacerbated by long-term glucocorticoid treatment. Monitoring of endocrine and skeletal health and timely intervention in at-risk patients is important in the management of children with DMD. Methods: As part of the Norwegian Duchenne muscular dystrophy cohort study, we examined the skeletal maturation of 62 boys less than 18 years old, both currently glucocorticoid treated ( n  = 44), previously treated ( n  = 6) and naïve ( n  = 12)...
2019: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31827538/clitoral-sizes-and-anogenital-distances-in-term-newborns-in-nigeria
#24
JOURNAL ARTICLE
Adesola Olubunmi Adekoya, Musili Bolanle Fetuga, Olumide Olatokunbo Jarrett, Tinuade Adetutu Ogunlesi, Jean-Pierre Chanoine, Abiola Omobonike Adekoya
Background: Previous studies suggest significant ethnic and racial differences in clitoral sizes and anogenital distances in the newborn. This study aimed to document normative data on clitoral sizes and anogenital distances of apparently normal term female infants in Sagamu. Methods: The study was a multi-center, cross-sectional descriptive research carried out among 317 female term infants within the first 72 h of life. Interviewer-based questionnaire was applied to obtain sociodemographic data, pregnancy and birth history...
2019: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31768183/adrenocortical-adenoma-in-a-sudanese-girl-with-beckwith-wiedemann-syndrome
#25
Eman Abdalla Ali Elnaw, Awad Rhmattalla Abdalla, Mohamed Ahmed Abdullah
Background: We report a case of right adrenocortical adenoma in a girl with features suggestive of Beckwith Wiedemann syndrome to show the importance of tumor surveillance in patients with Beckwith Wiedemann syndrome. Case presentation: A 4-years-old female with features suggestive of Beckwith-Wiedemann syndrome presented with 9 months history of virilization. Hormonal investigations results showed high levels of testosterone (2.3 ng/ml, normal values 0.1-0...
2019: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31700521/clinical-and-laboratory-characteristics-and-follow-up-of-62-cases-of-ketotic-hypoglycemia-a-retrospective-study
#26
JOURNAL ARTICLE
Paul Kaplowitz, Hilal Sekizkardes
INTRODUCTION: Idiopathic ketotic hypoglycemia (KH) is the most common cause of hypoglycemia in non-diabetic children ages 0.5-6 years old and typically occurs after a period of poor food intake. There are no large studies looking at the value of common laboratory testing in children presenting with KH or how often other diagnoses are made. OBJECTIVES: To examine the clinical presentations and the value of laboratory testing done in a cohort of children clinically diagnosed with KH...
2019: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31649741/precocious-puberty-and-chiari-i-malformation-with-syrinx-a-case-report-of-an-unusual-presentation-of-costello-syndrome
#27
Naomi S Schwartz, Molly O Regelmann
Background: Costello syndrome (CS) is a rare RASopathy causing developmental delays, short stature and classically, delayed puberty. We present a patient with CS and central precocious puberty (CPP). Case presentation: A female patient with CS presented at 6 years 10 months of age with breast development. CPP was biochemically confirmed at 7 years 1 month of age, no additional pituitary dysfunction was noted and puberty progressed at follow-up. Brain magnetic resonance imaging (MRI) revealed a Chiari I malformation with a syrinx, requiring surgical decompression...
2019: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/31149017/disorders-of-sex-development-dsd-web-based-information-quality-survey-of-dsd-team-websites
#28
JOURNAL ARTICLE
Michelle M Ernst, Diane Chen, Kim Kennedy, Tess Jewell, Afiya Sajwani, Carmel Foley, David E Sandberg
Objectives: Consumers rely on online health information, particularly for unusual conditions. Disorders of Sex Development (DSD) are complex with some aspects of care controversial. Accurate web-based DSD information is essential for decision-making, but the quality has not been rigorously evaluated. The purpose of the present study was to assess the quality of online health information related to DSD presented by 12 pediatric institutions comprising the NIH-sponsored DSD-Translational Research Network (DSD-TRN)...
2019: International Journal of Pediatric Endocrinology
https://read.qxmd.com/read/30377433/poor-growth-response-during-the-first-year-of-growth-hormone-treatment-in-short-prepubertal-children-with-growth-hormone-deficiency-and-born-small-for-gestational-age-a-comparison-of-different-criteria
#29
JOURNAL ARTICLE
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
https://read.qxmd.com/read/30214458/perioperative-care-of-congenital-adrenal-hyperplasia-a-disparity-of-physician-practices-in-canada
#30
JOURNAL ARTICLE
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
https://read.qxmd.com/read/30127804/multiple-endocrine-neoplasia-type-1-presenting-with-concurrent-insulinoma-and-prolactinoma-in-early-adolescence
#31
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
https://read.qxmd.com/read/30069184/real-world-efficacy-and-safety-of-insulin-degludec-with-mealtime-rapid-acting-insulin-in-type-1-diabetes-in-indian-pediatric-population
#32
JOURNAL ARTICLE
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
https://read.qxmd.com/read/30026763/challenging-diagnosis-of-congenital-hyperinsulinism-in-two-infants-of-diabetic-mothers-with-rare-pathogenic-kcnj11-and-hnf4a-gene-variants
#33
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
https://read.qxmd.com/read/29983717/mode-of-clinical-presentation-and-delayed-diagnosis-of-turner-syndrome-a-single-centre-uk-study
#34
JOURNAL ARTICLE
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
https://read.qxmd.com/read/29599801/continuous-flash-glucose-monitoring-in-children-with-congenital-hyperinsulinism-first-report-on-accuracy-and-patient-experience
#35
JOURNAL ARTICLE
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
https://read.qxmd.com/read/29507583/a-novel-homozygous-mutation-in-desert-hedgehog-dhh-in-a-46-xy-patient-with-dysgenetic-testes-presenting-with-primary-amenorrhoea-a-case-report
#36
JOURNAL ARTICLE
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
https://read.qxmd.com/read/29371863/body-composition-adipokines-bone-mineral-density-and-bone-remodeling-markers-in-relation-to-igf-1-levels-in-adults-with-prader-willi-syndrome
#37
JOURNAL ARTICLE
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
https://read.qxmd.com/read/29201065/a-medical-calculator-to-determine-testicular-volumes-matching-ultrasound-values-from-the-width-of-the-testis-obtained-in-the-scrotum-with-a-centimeter-ruler
#38
JOURNAL ARTICLE
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
https://read.qxmd.com/read/29075301/insulinoma-masquerading-as-a-loss-of-consciousness-in-a-teenage-girl-case-report-and-literature-review
#39
JOURNAL ARTICLE
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://read.qxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#40
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
journal
journal
42581
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.