Articles

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

Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience

Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and g...

Authors: Janel D. Hunter and Ali S. Calikoglu

Type 1 diabetes through two lenses: comparing adolescent and parental perspectives with photovoice

Parental support and care-coordination are vital for youth with type 1 diabetes (T1D) in achieving positive health outcomes. Yet, studies are rarely designed to identify factors that influence parent/youth col...

Authors: Ashby Walker, Desmond Schatz, Cathryn Johnson, Janet Silverstein, Shannon Lyles and Henry Rohrs

Pediatric thyroid surgery and management of thyroid nodules – an institutional experience over a 10-year period

We reviewed our institutional experience in the diagnosis and management of pediatric thyroid nodules and well-differentiated thyroid carcinoma (WDTC), highlighting the unique challenges in this population.

Authors: Wen Jiang, Robert O. Newbury and Ron S. Newfield

Peak cortisol response to corticotropin-releasing hormone is associated with age and body size in children referred for clinical testing: a retrospective review

Corticotropin-Releasing Hormone (CRH) testing is used to evaluate suspected adrenocorticotropic hormone (ACTH) deficiency, but the clinical characteristics that affect response in young children are incomplete...

Authors: Mary Ellen Vajravelu, Jared Tobolski, Evanette Burrows, Marianne Chilutti, Rui Xiao, Vaneeta Bamba, Steven Willi, Andrew Palladino, Jon M. Burnham and Shana E. McCormack

Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia

Outcome information regarding females with classical congenital adrenal hyperplasia (CAH) have generally suggested poor quality of life (QoL), general maladjustment, problems regarding sexuality, and decreased...

Authors: Mansi Kanhere, John Fuqua, Richard Rink, Christopher Houk, David Mauger and Peter A. Lee

Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging

The focal form of congenital hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin-oversecreting β cells within a restricted area of the pancreas. Although identification of the focal lesion ...

Authors: Yukiko Hashimoto, Azumi Sakakibara, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru, Tetsuro Nakamura, Hiroko Fukushima, Aiko Igarashi, Michiya Masue, Hironori Nishibori, Nobuyoshi Tamagawa, Akiko Murakami, Kazue Hatake and Tohru Yorifuji

Noonan syndrome and Turner syndrome patients respond similarly to 4 years’ growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program

Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS p...

Authors: Peter A. Lee, Judith L. Ross, Birgitte Tønnes Pedersen, Primoz Kotnik, John A. Germak and Henrik T. Christesen

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome

Cushing Syndrome is difficult to diagnose, and the comorbidities and persistent late effects of hypercortisolemia after treatment of the primary disease are challenging for the patient and the endocrinologist.

Authors: Sara K. Bartz, Lefkothea P. Karaviti, Mary L. Brandt, Monica E. Lopez, Prakash Masand, Sridevi Devaraj, John Hicks, Lauren Anderson, Maya Lodish, Meg Keil and Constantine A. Stratakis

Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis

Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turne...

Authors: Nicole M. Sheanon and Philippe F. Backeljauw

A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels

Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted.

Authors: Cassandra Brady, Andrew A. Palladino and Iris Gutmark-Little

Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1

Pediatric pituitary adenomas are rare, accounting for <3 % of all childhood intracranial tumors, the majority of which are prolactinomas. Consequently, they are often misdiagnosed as other suprasellar masses s...

Authors: Hoong-Wei Gan, Chloe Bulwer, Owase Jeelani, Michael Alan Levine, Márta Korbonits and Helen Alexandra Spoudeas

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

Gonadal dysgenesis (GD) is associated with increased risk of gonadal malignancy. Determining a patient’s risk and appropriate timing of gonadectomy is challenging, but immunohistochemical markers (IHM) may hel...

Authors: Bonnie McCann-Crosby, Sheila Gunn, E. O’Brian Smith, Lefkothea Karaviti and M. John Hicks

Primary ovarian insufficiency in adolescents: a case series

Primary ovarian insufficiency (POI) is characterized by 4 to 6 months of amenorrhea and elevated serum FSH and LH in females less than 40 years. Ovarian insufficiency is uncommon in pediatrics and typically re...

Authors: Julia Pederson, Rajiv B Kumar, Paula J Adams Hillard and Laura K Bachrach

Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia

11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia. Untreated, this enzyme deficiency leads to virilization, hypertension, and significant height impairment.

Authors: Munier A Nour and Danièle Pacaud

Sirolimus treatment of severe congenital hyperinsulinism

Authors: Lisa A Amato, Charmian A Quigley, Kris A Neville, Shihab Hameed, Charles F Verge, Helen J Woodhead and Jan L Walker

Persistent hyperinsulinemic hypoglycemic in infant: a case report

Authors: Nur Rochmah and Muhammad Faizi

Multiple endocrine glands insufficiency due to langerhans cell histiocytosis (LCH): a case report

Authors: DoThi Thanh Mai, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Can Thi Bich Ngoc and Nguyen Phu Dat

Bone mineral content in growth hormone deficient children treated with growth hormone after withdrawal of 1 year of supplementation with calcium, vitamin D and zinc

Authors: Vaman Khadilkar, Veena Ekbote, Shashi Chiplonkar and Anuradha Khadilkar

The pattern of disorders of sex development in Vietnamese children

Authors: Pham Thu Nga, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Hoan Nguyen Thi and Dat Nguyen Phu

Study of serum visfatin and blood glucose and lipid metabolism, nafld in simple obese children

Authors: Rui-zhen Li, Hui-ling Lu, Xin-yu Ma and Shi-xiu Kang

Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

Authors: Mary Abraham, Li Dong, Shoshana Rath, Susan O’Connell, Fiona McKenzie, Hakon Hakonarson, Catherine S Choong and Michael Levine

Hearing loss in osteogenesis imperfecta patients

Authors: Lai Thu Ha, Vu Chi Dung, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Ngoc Khanh and Luong Hong Chau

An infant with Cushing syndrome

Authors: Andrew Sng, Kah Yin Loke, Yvonne Lim and Cindy Ho

Turner syndrome and growth hormone therapy: a review on growth response

Authors: Nalini M Selveindran, Janet YH Hong, Arini Muhd Idris, SL Teoh, Karen SW Leong and Fuziah M Zain

Growth status of first grader children in elementary schools in Watu Alo, Manggarai, East Nusa Tenggara

Authors: Dwi Lestari Pramesti, Srisadono Fauzi Adiwibowo, Komang Ferdiana, Ria Ramadhani, Hardian Gunardi and Aman Pulungan

Continuous subcutaneous insulin infusion is associated with a reduced rate of microvascular complications

Authors: Bedowra Zabeen, Maria E Craig, Alison Pryke, Albert K F Chan, Yoon Hi Cho, Paul Benitez Aguirre, Stephen Hing and Kim C Donaghue

The effect and the mechanism of allo-bone marrow mesenchymal stem cells in experimental autoimmune thyroiditis

Authors: Rongxiu Zheng, Yanan Chu, Lihui Wang, Yongqing Ni and Yi Zhang

Height and height velocity of early/average/late maturing children and adolescents from longitudinal study of the Kangwha cohort

Authors: Hyun Wook Chae, Ah Reum Kwon, Jung Min Ahn, Dae Ryong Kang, Ha Yan Kim, Sun Min Oh, Hyeon Chang Kim, Il Suh, Duk Hee Kim and Ho-Seong Kim

Abundant CD4+FOXP3+ regulatory T cells fail to suppress the proliferation of T cells in patients with Turner syndrome

Authors: Young Ah Lee, Hang-Rae Kim, Jeong Seon Lee, Haewoon Jung, Hwa Young Kim, Kyung Min Lee, Ji Hyun Sim, Doo Hyun Chung, Choong Ho Shin and Sei Won Yang

Prevalence and potential risk factors of hypokalemia in pediatric patients with diabetic ketoacidosis

Authors: Lai Ka Lee, Chun Hung Ko, Ching Yin Lee, Ching Ngar Hung, Nai Chung Fong and Wai Lim Yiu

Electrocardiography evaluation in type 1 diabetes mellitus, preliminary study

Authors: Nur Rochmah and Muhammad Faizi

African immigrant parents' understanding of their teenagers' newly diagnosed diabetes status in Perth, Western Australia

Authors: Annette S Hart, Sara Baynes and Sadie Geraghty