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  1. Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spec...

    Authors: Salwa A. Musa, Areej A. Ibrahim, Samar S. Hassan, Matthew B Johnson, Asmahan T. Basheer, Ali M. Arabi and Mohamed A. Abdullah

    Citation: International Journal of Pediatric Endocrinology 2020 2020:21

    Content type: Research

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  2. Growth hormone (GH) deficiency is common in patients with Prader-Willi syndrome (PWS) and leads to short adult stature. The current study assessed clinical outcomes based on real-world observational data in pe...

    Authors: Moris Angulo, M. Jennifer Abuzzahab, Alberto Pietropoli, Vlady Ostrow, Nicky Kelepouris and Maithe Tauber

    Citation: International Journal of Pediatric Endocrinology 2020 2020:20

    Content type: Research

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  3. Treatment of children with growth hormone deficiency (GHD) or idiopathic short stature (ISS) using GH is only effective for bone growth prior to epiphyseal fusion. Aromatase inhibitor therapy (AIT) blocks estr...

    Authors: Bradley S. Miller, Judith Ross and Vlady Ostrow

    Citation: International Journal of Pediatric Endocrinology 2020 2020:19

    Content type: Research

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  4. The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. Currently no consensus exists on the risk of malignancy in this syndrome. Several case reports show an inc...

    Authors: Kimberley Bonouvrie, Jutte van der Werff ten Bosch and Machiel van den Akker

    Citation: International Journal of Pediatric Endocrinology 2020 2020:18

    Content type: Review

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  5. Antifungals act on fungal sterols structurally similar to human cholesterol. Ketoconazole reversibly suppresses steroidogenesis by inhibiting cytochrome P450 enzymes and interferes with dihydrotestosterone (DH...

    Authors: Jasmine Gujral, Gertrude Costin, Divya Khurana, Mabel Yau, Elizabeth Wallach, Christopher J. Romero, Meredith Wilkes, Swathi Sethuram and Robert Rapaport

    Citation: International Journal of Pediatric Endocrinology 2020 2020:16

    Content type: Case report

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  6. Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated insulin secretion. In focal CHI, a localised lesion within the pancreas hypersecretes in...

    Authors: Daphne Yau, Ria Marwaha, Klaus Mohnike, Rakesh Sajjan, Susann Empting, Ross J. Craigie, Mark J. Dunne, Maria Salomon-Estebanez and Indraneel Banerjee

    Citation: International Journal of Pediatric Endocrinology 2020 2020:17

    Content type: Case report

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  7. Acrodyostosis type 1 (ACRDYS1) is a rare skeletal dysplasia, and sometimes it can be misdiagnosed as pseudohypoparathyroidism type 1A (PHP1A), a subtype of Albright hereditary osteodystrophy (AHO), due to over...

    Authors: Whei Ying Lim, Emily L. Germain-Lee and Nancy S. Dunbar

    Citation: International Journal of Pediatric Endocrinology 2020 2020:15

    Content type: Case report

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  8. We report for the first time a synchronous papillary and follicular thyroid carcinoma in a 12-year-old girl presenting with a large (5 cm diameter) left thyroid nodule, an increased left and right upper pole t...

    Authors: Joke Van Vlaenderen, Karl Logghe, Eva Schiettecatte, Hubert Vermeersch, Wouter Huvenne, Kathleen De Waele, Hanne Van Beveren, Jo Van Dorpe, David Creytens and Jean De Schepper

    Citation: International Journal of Pediatric Endocrinology 2020 2020:14

    Content type: Case report

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  9. Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, whic...

    Authors: Joanna Yuet-ling Tung, Sophie Hon Yu Lai, Sandy Leung Kuen Au, Kit San Yeung, Anita Sik Yau Kan, Florence Loong, Diva D. DeLeón, Jennifer M. Kalish, Arupa Ganguly, Brian Hon Yin Chung and Kelvin Yuen Kwong Chan

    Citation: International Journal of Pediatric Endocrinology 2020 2020:13

    Content type: Case report

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  10. Youth onset type 1 diabetes (T1D) and type 2 diabetes (T2D) is increasing and associated with earlier vascular complications and mortality. Dyslipidemia is an important modifiable cardiovascular (CVD) risk fac...

    Authors: Grace Kim, Daniel DeSalvo, Danielle Guffey, Charles G. Minard, Constance Cephus, Douglas Moodie and Sarah Lyons

    Citation: International Journal of Pediatric Endocrinology 2020 2020:11

    Content type: Research

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  11. The transition process from pediatric to adult care in individuals with T1D has long-term ramifications on health outcomes. Recognition of differences in care delivery and changes made in management during thi...

    Authors: Abby M. Walch, Carmen E. Cobb, Shirng-Wern Tsaih and Susanne M. Cabrera

    Citation: International Journal of Pediatric Endocrinology 2020 2020:10

    Content type: Research

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  12. Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) is a rare congenital cholestatic liver disease that progresses to end stage liver disease. It is associated with fat soluble vitamin D deficiency ri...

    Authors: Sunitha R. Sura and Emily L. Germain-Lee

    Citation: International Journal of Pediatric Endocrinology 2020 2020:9

    Content type: Case report

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  13. Transgender youths experience high rates of depression and suicidal ideation compared to cisgender peers. Previous studies indicate that endocrine and/or surgical interventions are associated with improvements...

    Authors: Christal Achille, Tenille Taggart, Nicholas R. Eaton, Jennifer Osipoff, Kimberly Tafuri, Andrew Lane and Thomas A. Wilson

    Citation: International Journal of Pediatric Endocrinology 2020 2020:8

    Content type: Research

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  14. Recently, childhood and adolescence overweight/obesity has increased disproportionately in developing countries, with estimates predicting a parallel increase in future cardiovascular disease (CVD) burden iden...

    Authors: Simeon-Pierre Choukem, Joel Noutakdie Tochie, Aurelie T. Sibetcheu, Jobert Richie Nansseu and Julian P. Hamilton-Shield

    Citation: International Journal of Pediatric Endocrinology 2020 2020:6

    Content type: Review

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  15. Premature adrenarche has been described as clinical and biochemical hyperandrogenism before the age of 8 years in girls and 9 years in boys and absence of signs of true puberty. Adrenal pathology such as adren...

    Authors: Christy Foster, Alicia Diaz-Thomas and Amit Lahoti

    Citation: International Journal of Pediatric Endocrinology 2020 2020:5

    Content type: Research

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  16. There is a paucity of tools that can be used in routine clinical practice to assess the psychosocial impact of Disorders/Differences of Sex Development (DSD) on parents and children.

    Authors: Salma R. Ali, Zoe Macqueen, Melissa Gardner, Yiqiao Xin, Andreas Kyriakou, Avril Mason, M. Guftar Shaikh, Sze C. Wong, David E. Sandberg and S. Faisal Ahmed

    Citation: International Journal of Pediatric Endocrinology 2020 2020:3

    Content type: Research

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  17. Intracranial lipomas are rare, congenital lesions, most often located at the midline. Most hypothalamic lipomas are asymptomatic, but some cases have been associated with precocious puberty, hypothermia, heada...

    Authors: Anne Rochtus, Joseph Vinckx and Francis de Zegher

    Citation: International Journal of Pediatric Endocrinology 2020 2020:4

    Content type: Case report

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  18. 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)...

    Authors: 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 and Rossella Gaudino

    Citation: International Journal of Pediatric Endocrinology 2020 2020:1

    Content type: Case report

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  19. 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-te...

    Authors: E. J. Annexstad, J. Bollerslev, J. Westvik, A. G. Myhre, K. Godang, I. Holm and M. Rasmussen

    Citation: International Journal of Pediatric Endocrinology 2019 2019:4

    Content type: Research

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  20. 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 distan...

    Authors: Adesola Olubunmi Adekoya, Musili Bolanle Fetuga, Olumide Olatokunbo Jarrett, Tinuade Adetutu Ogunlesi, Jean-Pierre Chanoine and Abiola Omobonike Adekoya

    Citation: International Journal of Pediatric Endocrinology 2019 2019:5

    Content type: Research

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  21. 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.

    Authors: Eman Abdalla Ali Elnaw, Awad Rhmattalla Abdalla and Mohamed Ahmed Abdullah

    Citation: International Journal of Pediatric Endocrinology 2019 2019:6

    Content type: Case report

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  22. 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 l...

    Authors: Paul Kaplowitz and Hilal Sekizkardes

    Citation: International Journal of Pediatric Endocrinology 2019 2019:3

    Content type: Research

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  23. 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).

    Authors: Naomi S. Schwartz and Molly O. Regelmann

    Citation: International Journal of Pediatric Endocrinology 2019 2019:2

    Content type: Case report

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  24. 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 e...

    Authors: Michelle M. Ernst, Diane Chen, Kim Kennedy, Tess Jewell, Afiya Sajwani, Carmel Foley and David E. Sandberg

    Citation: International Journal of Pediatric Endocrinology 2019 2019:1

    Content type: Research

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  25. 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 childr...

    Authors: Saartje Straetemans, Muriel Thomas, Margarita Craen, Raoul Rooman and Jean De Schepper

    Citation: International Journal of Pediatric Endocrinology 2018 2018:9

    Content type: Research

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  26. 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 (s...

    Authors: Munier A. Nour, Hardave Gill, Prosanta Mondal, Mark Inman and Kristine Urmson

    Citation: International Journal of Pediatric Endocrinology 2018 2018:8

    Content type: Research

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  27. 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 et...

    Authors: Yasmin Akhtar, Angela Verardo and Janet L. Crane

    Citation: International Journal of Pediatric Endocrinology 2018 2018:7

    Content type: Case report

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  28. 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 Ind...

    Authors: Inderpal Singh Kochar and Aashish Sethi

    Citation: International Journal of Pediatric Endocrinology 2018 2018:6

    Content type: Research

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  29. 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 hy...

    Authors: Lina Huerta-Saenz, Carol Saunders and Yun Yan

    Citation: International Journal of Pediatric Endocrinology 2018 2018:5

    Content type: Case report

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  30. 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 statur...

    Authors: Louise Apperley, Urmi Das, Renuka Ramakrishnan, Poonam Dharmaraj, Jo Blair, Mohammed Didi and Senthil Senniappan

    Citation: International Journal of Pediatric Endocrinology 2018 2018:4

    Content type: Research

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  31. 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 patient...

    Authors: Hussain Alsaffar, Lucy Turner, Zoe Yung, Mohammed Didi and Senthil Senniappan

    Citation: International Journal of Pediatric Endocrinology 2018 2018:3

    Content type: Research

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  32. 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 tumo...

    Authors: 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 and Catherine S. Choong

    Citation: International Journal of Pediatric Endocrinology 2018 2018:2

    Content type: Case report

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  33. 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 describe...

    Authors: I. Caroline van Nieuwpoort, Jos W. R. Twisk, Leopold M. G. Curfs, Paul Lips and Madeleine L. Drent

    Citation: International Journal of Pediatric Endocrinology 2018 2018:1

    Content type: Research

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  34. 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 adu...

    Authors: Juan F. Sotos and Naomi J. Tokar

    Citation: International Journal of Pediatric Endocrinology 2017 2017:14

    Content type: Letter to the Editor

    Published on:

  35. 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...

    Authors: Meghana Gudala, Mahmuda Ahmed, Rushika Conroy and Ksenia Tonyushkina

    Citation: International Journal of Pediatric Endocrinology 2017 2017:13

    Content type: Case report

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  36. 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).

    Authors: Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu and Peter White

    Citation: International Journal of Pediatric Endocrinology 2017 2017:12

    Content type: Case report

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  37. 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 eradica...

    Authors: Christine E. Cherella and Ari J. Wassner

    Citation: International Journal of Pediatric Endocrinology 2017 2017:11

    Content type: Review

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  38. 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 gl...

    Authors: Huseyin Demirbilek, Sofia A. Rahman, Gonul Gulal Buyukyilmaz and Khalid Hussain

    Citation: International Journal of Pediatric Endocrinology 2017 2017:9

    Content type: Review

    Published on:

  39. 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, ...

    Authors: Dinesh Giri, Daniel Rigden, Mohammed Didi, Matthew Peak, Paul McNamara and Senthil Senniappan

    Citation: International Journal of Pediatric Endocrinology 2017 2017:8

    Content type: Case report

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  40. 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 accur...

    Authors: Juan F. Sotos and Naomi J. Tokar

    Citation: International Journal of Pediatric Endocrinology 2017 2017:7

    Content type: Research

    Published on:

    The Erratum to this article has been published in International Journal of Pediatric Endocrinology 2017 2017:10

  41. 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 ne...

    Authors: Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine, Margaret Zacharin and Samuel Blay Nguah

    Citation: International Journal of Pediatric Endocrinology 2017 2017:6

    Content type: Research

    Published on:

  42. 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 cli...

    Authors: Melinda Chen, Matthew Lash, Todd Nebesio and Erica Eugster

    Citation: International Journal of Pediatric Endocrinology 2017 2017:5

    Content type: Research

    Published on:

  43. 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 geni...

    Authors: Pierre Bougnères, Claire Bouvattier, Maryse Cartigny and Lina Michala

    Citation: International Journal of Pediatric Endocrinology 2017 2017:3

    Content type: Research

    Published on:

  44. 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 publish...

    Authors: Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine and Samuel Blay Nguah

    Citation: International Journal of Pediatric Endocrinology 2017 2017:2

    Content type: Research

    Published on:

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