Articles

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

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

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 ...

Authors: Mary B. Abraham, Dong Li, Dave Tang, Susan M. O’Connell, Fiona McKenzie, Ee Mun Lim, Hakon Hakonarson, Michael A. Levine and Catherine S. Choong

Rabson Mendenhall Syndrome caused by a novel missense mutation

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 associate...

Authors: Krishnapradeep Sinnarajah, M. B. K. C. Dayasiri, N. D. W. Dissanayake, S. T. Kudagammana and A. H. H. M. Jayaweera

Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis

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 widesp...

Authors: Nadia Y. Edelsztein, Romina P. Grinspon, Helena F. Schteingart and Rodolfo A. Rey

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

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 influen...

Authors: Reiko Horikawa, Toshiaki Tanaka, Hiromi Nishinaga, Yoshihisa Ogawa and Susumu Yokoya

Case report: recurrent abdominal symptoms in a child with panhypopituitarism – there is always a differential

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).

Authors: Laura Olbrich, Eva Schmidt, Ertan Mayatepek and Markus Vogel

Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia

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...

Authors: Todd D. Nebesio, Jamie L. Renbarger, Zeina M. Nabhan, Sydney E. Ross, James E. Slaven, Lang Li, Emily C. Walvoord and Erica A. Eugster

Delayed methimazole-induced agranulocytosis in a 6-year old patient with Graves’ disease

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 develo...

Authors: Vidya Puthenpura, Kinjal Desai, Andrew Bauer and Ian Marshall

Body mass index in girls with idiopathic central precocious puberty during and after treatment with GnRH analogues

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 Inde...

Authors: A. J. Arcari, M. G. Gryngarten, A. V. Freire, M. G. Ballerini, M. G. Ropelato, I. Bergadá and M. E. Escobar

Vague neuroglycopenic complaints camouflage diagnosis of adolescent insulinoma: a case report

Insulinoma is a rare diagnosis in the general population with estimates of 1 in 250,000 people per year. Reports of these pancreatic islet cell tumors are even more unusual in children and adolescents. Chronic...

Authors: Kelsee Halpin, Ryan McDonough, Patria Alba, Jared Halpin, Vivekanand Singh and Yun Yan

Growth and descent of the testes in infants with hypogonadotropic hypogonadism receiving subcutaneous gonadotropin infusion

One third of infants with congenital hypogonadotropic hypogonadism (CHH) are said to have micropenis and/or bilateral or unilateral cryptorchidism leading many of them to orchiopexy. Our previous study in two ...

Authors: Anne-Sophie Lambert and Pierre Bougneres

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing

17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was...

Authors: Chelsey Grimbly, Oana Caluseriu, Peter Metcalfe, Mary M. Jetha and Elizabeth T. Rosolowsky

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome

47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature.

Authors: Noor Shafina Mohd Nor and Muhammad Yazid Jalaludin

Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy

Classic congenital adrenal hyperplasia (CAH) requires lifetime steroid replacement and supraphysiologic glucocorticoid dose is often required for adequate adrenal androgen suppression. Patients often suffer fr...

Authors: Urania Dagalakis, Ashwini Mallappa, Meredith Elman, Martha Quezado and Deborah P. Merke

Do 6-8 year old girls with central precocious puberty need routine brain imaging?

The subject of whether all girls with central precocious puberty (CPP) require brain imaging is controversial.

Authors: Paul B. Kaplowitz

Influences of gender on cardiovascular disease risk factors in adolescents with and without type 1 diabetes

Women with type 1 diabetes (T1D) have a four-fold increased risk for cardiovascular disease (CVD) compared to non-diabetic (non-DM) women, as opposed to double the risk in T1D men compared to non-DM men. It is...

Authors: Talia L. Brown, David M. Maahs, Franziska K. Bishop, Janet K. Snell-Bergeon and R. Paul Wadwa

An audit of the management of childhood-onset growth hormone deficiency during young adulthood in Scotland

Adolescents with childhood onset growth hormone deficiency (CO-GHD) require re-evaluation of their growth hormone (GH) axis on attainment of final height to determine eligibility for adult GH therapy (rhGH).

Authors: M. Ahmid, V. Fisher, A. J. Graveling, S. McGeoch, E. McNeil, J. Roach, J. S. Bevan, L. Bath, M. Donaldson, G. Leese, A. Mason, C. G. Perry, N. N. Zammitt, S. F. Ahmed and M. G. Shaikh

Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency

Hypopituitarism and obesity are causes of major lifelong morbidity in patients with optic nerve hypoplasia (ONH). Growth hormone deficiency (GHD) affects the majority of children with ONH, though the degree of...

Authors: Carly Stewart, Pamela Garcia-Filion, Cassandra Fink, Anna Ryabets-Lienhard, Mitchell E. Geffner and Mark Borchert

International Journal of Pediatric Endocrinology reviewer acknowledgement 2015

The editor of International Journal of Pediatric Endocrinology would like to thank all of the reviewers who have contributed to the journal in 2015.

Authors: Surendra Varma

Increasing incidence of premature thelarche in the Central Region of Denmark - Challenges in differentiating girls less than 7 years of age with premature thelarche from girls with precocious puberty in real-life practice

Premature thelarche (PT) seems to be increasing and it is difficult to differentiate its early stages from precocious puberty (PP). Clinical and biochemical parameters are warranted to differentiate the two di...

Authors: Mia Elbek Sømod, Esben Thyssen Vestergaard, Kurt Kristensen and Niels Holtum Birkebæk