Articles

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children

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

Outcomes in children treated with growth hormone for Prader-Willi syndrome: data from the ANSWER Program® and NordiNet® International Outcome Study

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

Height outcomes in children with growth hormone deficiency and idiopathic short stature treated concomitantly with growth hormone and aromatase inhibitor therapy: data from the ANSWER program

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

Klinefelter syndrome and germ cell tumors: review of the literature

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

Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy

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

Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy

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

Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report

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

A synchronous papillary and follicular thyroid carcinoma presenting as a large toxic nodule in a female adolescent

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

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

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

Birth anthropometry and cord blood leptin in Korean appropriate-for-gestational-age infants born at ≥ 28 weeks’ gestation: a cross sectional study

We investigated whether leptin during the third trimester was associated with fetal growth compared to IGF-1.

Authors: Seok Jin Kang, Jin Gon Bae, Shin Kim and Jae Hyun Park

Dyslipidemia in adolescents and young adults with type 1 and type 2 diabetes: a retrospective analysis

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

The medical transition of young adults with type 1 diabetes (T1D): a retrospective chart review identifies areas in need of improvement

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

Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2

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

Longitudinal impact of gender-affirming endocrine intervention on the mental health and well-being of transgender youths: preliminary results

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

Thyrotoxic periodic paralysis presenting in an African-American teenage male: case report

Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism and is associated with hypokalemia and muscle paralysis. This condition is most commonly seen in Asian men.

Authors: Joshua Glass and Jennifer Osipoff

Overweight/obesity and associated cardiovascular risk factors in sub-Saharan African children and adolescents: a scoping review

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

Low prevalence of organic pathology in a predominantly black population with premature adrenarche: need to stratify definitions and screening protocols

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

Parent-reported outcomes in young children with disorders/differences of sex development

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

Hypothalamic lipoma and growth hormone deficiency

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

Van Wyk-Grumbach syndrome in a female pediatric patient with trisomy 21: a case report

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. Va...

Authors: Jyotsna Gupta and Karen Lin-Su

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

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

The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy

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

Clitoral sizes and anogenital distances in term newborns in Nigeria

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

Adrenocortical adenoma in a Sudanese girl with Beckwith-Wiedemann syndrome

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

Clinical and laboratory characteristics and follow up of 62 cases of ketotic hypoglycemia: a retrospective study

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

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome

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

Disorders of sex development (DSD) web-based information: quality survey of DSD team websites

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

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

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

Perioperative care of congenital adrenal hyperplasia – a disparity of physician practices in Canada

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

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

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

Real-world efficacy and safety of insulin degludec with mealtime rapid-acting insulin in type 1 diabetes in Indian pediatric population

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

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants

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

Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study

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

Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience

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

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

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

Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome

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

Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE)

Authors:

A medical calculator to determine testicular volumes matching ultrasound values from the width of the testis obtained in the scrotum with a centimeter ruler

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

Insulinoma masquerading as a loss of consciousness in a teenage girl: case report and literature review

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

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

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

Congenital hypothyroidism: insights into pathogenesis and treatment

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

Erratum to: Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development

Authors: Juan F. Sotos and Naomi J. Tokar

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology

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

Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency

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

Appraisal of testicular volumes: volumes matching ultrasound values referenced to stages of genital development

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

Clitoral size in term newborns in Kumasi, Ghana

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

Change in BMI after radioactive iodine ablation for graves disease

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

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

Authors: Anya Rothenbuhler, Agnès Linglart and Pierre Bougnères

Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study

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

Normative penile anthropometry in term newborns in Kumasi, Ghana: a cross-sectional prospective study

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