journal
MENU ▼
Read by QxMD icon Read
search

International Journal of Pediatric Endocrinology

journal
https://www.readbyqxmd.com/read/29983717/mode-of-clinical-presentation-and-delayed-diagnosis-of-turner-syndrome-a-single-centre-uk-study
#1
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://www.readbyqxmd.com/read/29599801/continuous-flash-glucose-monitoring-in-children-with-congenital-hyperinsulinism-first-report-on-accuracy-and-patient-experience
#2
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://www.readbyqxmd.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
#3
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://www.readbyqxmd.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
#4
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://www.readbyqxmd.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
#5
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://www.readbyqxmd.com/read/29075301/insulinoma-masquerading-as-a-loss-of-consciousness-in-a-teenage-girl-case-report-and-literature-review
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
journal
journal
42581
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

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"