Articles

Challenges in the diagnosis and management of Pseudohypoaldosteronism Type 1

Authors: Uma Visser, Paul Jenkins and Tony Lafferty

46,XY disorder of sex development and wilms’ tumor due to mutation of WT1 gene: a case report

Authors: Vu Chi Dung, Bui Phuong Thao and Maki Fukami

Anthropometrics of neonates born to mothers with diabetes in pregnancy in the Northern Territory

Authors: Danielle Longmore, Alex Brown, I-Lynn Lee, Christine Connors, Cherie Whitbread, Marie Kirkwood, Jeremy Oats, David McIntyre, Jonathan Shaw, Paul Zimmet, Kerin O’Dea and Louise Maple-Brown

Shorter mothers have shorter pregnancies

Authors: José Derraik, Tim Savage, Paul Hofman and Wayne Cutfield

First borns and offspring of younger parents have increased metabolic risk

Authors: Benjamin Albert, Martin de Bock, José Derraik, Janene Biggs, Christine Brennan, Paul Hofman and Wayne Cutfield

Block & replacement regimen is more cost effective than titration regimen in treating thyrotoxicosis in children, without more harm

Authors: MK Anne Kwok and PT Cheung

Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule

Authors: Kiranjit Joshi, George Sim, Francis Lannigan, Felicity Frost, Priyanthi Kumarsinghe, Elizabeth Thomas, Glynis Price, Hieu Nguyen, Gareth Baynam, Adrien Charles and Catherine Choong

Permanent and transient congenital hypothyroidism in Korea: analysis of patients in a single center

Authors: Jeongho Lee and Dong Hwan Lee

The characteristics of familial precocious puberty

Authors: Hwal Rim Jeong, Eun Byul Kwon, Young Seok Shim, Hae Sang Lee and Jin Soon Hwang

Final height after gonadotropin-releasing hormone agonists with or without growth hormone in Korean girls with central precocious puberty and early puberty

Authors: Eun Byul Kwon, Young Suk Shim, Hae Sang Lee, Hwal Rim Jeong and Jin Soon Hwang

Pseudohypoparathyroidism: phenotypic spectrum in kindred

Authors: Antonette A. A. Natino and Rashida Vasanwala

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report

Authors: Mary Abraham, Sarah Flanagan, Vinutha Shetty, Glynis Price, Martin deBock, Aris Siafarikas, Sian Ellard, Steven Resnick, Elizabeth Whan, Elizabeth Davis, Timothy Jones, Khalid Hussain and Catherine Choong

Insulin resistance and adverse lipid profile in obese pre-pubertal South Indian children

Authors: Ayyavoo Ahila, Vijayakumar Vimalraj and Palany Raghupathy

Association of serum 25-hydroxyvitamin D concentration and metabolic syndrome in Korean children and adolescents

Authors: Eun Young Kim, Tae Hwang Il and Kyung Hee Yi

Effects of long term anti epileptic drugs on serum vitamin D levels and bone profile in a cohort of Sri Lankan children

Authors: N Ginige, K. S. H de Silva, J. K Wanigasinghe, N. S Gunawardane and T. M. J Munasinghe

Vitamin D deficiency rickets – tip of the ice burg

Authors: Navoda Atapattu, Subashini Jayasena, Eresha Jasinghe, Dayanath Bolonnage and Shamya De Silva

Vitamin D status of healthy adolescents from two states in Malaysia

Authors: Suhaimi Hussain, Maged Elnajeh, Muhammad Yazid Jalaludin and Fatimah Harun

Parathyroid adenomas – a cluster of boys

Authors: Angela Titmuss, Shubha Srinivasan, Paul Benitez-Aguirre, Albert Shun, Ann Maguire, Craig Munns, Chris Cowell, Geoff Ambler and Kim Donaghue

Idiopathic calcinosis cutis universalis

Authors: Bina Akura and Lanny C Gultom

Gender change and stigmatization in late-treated Indonesian children, adolescent, and adult patients with DSD

Authors: Annastasia Ediati, Achmad Zulfa Juniarto, Erwin Birnie, Jolanda Okkerse, Anne de la Croix, Amy Wisniewski, Stenvert Drop, Sultana MH Faradz and Arianne Dessens

Pamidronate therapy for hypercalcemia of childhood malignancy

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

Response to growth hormone therapy and gonadal pathology in 45,X/46,XY females

Authors: Angela Titmuss, Paul Benitez-Aguirre, Andrew Biggin, Maria Craig, Bin Moore, Neville Howard, Christopher Cowell, Geoffrey Ambler and Shubha Srinivasan

Evaluation of parental knowledge after establishing CAH clubs in Vietnam & Indonesia

Authors: Irene Mitchelhill, Kate Armstrong, Maria Craig, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Thi Bich Ngoc, Thuy Thi Diem Hoang, Huynh Quynh, Dong Trieu Phuong Tran, Pham Ngoc Trach, Huynh Thoai Loan, Nguyen Phuong Khanh, Tran Thi Bich Huyen, Aman Pulungan and Frida Soesanti

The outcomes of a standardized approach to managing metabolic bone disease of prematurity

Authors: Lit Kim Chin, John Doan, Yvonne Sui Lien Teoh, Alice Stewart, Peter Forrest and Peter J Simm

High incidence of vitamin D deficiency in 2 – 17 year olds presenting with fracture to a Melbourne suburban public hospital

Authors: Dae Kwon, Chris Harris, Abhay Khot, David Krieser, Danny Liew, Sharon Brennan, Peter Ebeling and Christine Rodda

Growth status of small for gestational age (SGA) Indian children from two socioeconomic strata

Authors: Vaman Khadilkar, Rubina Mandlik, Sonal Palande, Meghna Chawla, Ruchi Nadar, Shashi Chiplonkar and Anuradha Khadilkar

Response to low dose growth hormone treatment in infants and toddlers with Prader-Willi Syndrome

Authors: Elly Scheermeyer, Mark Harris, Ian Hughes, Patricia A Crock, Geoffrey Ambler, Charles F Verge, Phil Bergman, George Werther, Maria E Craig, Catherine S Choong and Peter SW Davies

Association of serum concentrations of perfluoroalkyl compounds with poor growth and failure to weight gain in 2-year-old children

Authors: Young Ah Lee, Jin Hee Kim, Hwa Young Kim, Haewoon Jung, Jieun Lee, Juyoung Yoon, Sanghyuk Bae, Yun-Chul Hong, Choong Ho Shin and Sei Won Yang

Permanent neonatal diabetes due to a heterozygous INS mutation

Authors: Kha Chin Long, Johari Mohd Ali, Muhammad Yazid Jalaludin and Fatimah Harun

Comparison of alternating home telemedicine consultations with regular face to face consultations in type 1 diabetes

Authors: Peter W Goss, Jennifer L Goss and William E Goss

Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case

Authors: Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Nguyen Ngoc Khanh, Nguyen Phu Dat, Sian Ellard and Maria Craig

Endocrine dysfunctions in patients with mitochondrial diseases

Authors: Ja Hyang Cho, Ja Hye Kim, Jin-Ho Choi, Gu-Hwan Kim and Han-Wook Yoo

Eye and renal complication in pediatric patients with diabetes mellitus type 1

Authors: Nguyen Tran Ngoc Hieu, Bui PhuongThao, Vu Chi Dung, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Nguyen Thi Hoan, Nguyen Phu Dat and Truong Ngoc Duong

Drilling down on the vitamin D debate: where are our priorities?

Authors: Leanne M. Ward

Controversies of the assesment and management of polycystic ovary syndrome in adolescents

Authors: Alexia Peña and Preeti Dabadghao

Early identification of monogenic diabetes: implications on medical treatment and genetic counselling for an adolescent girl with MODY3

Authors: Wai-chun Wong and Chi-tak Tong

Strategies for management of diabetes in the young in China

Authors: Xiaoping Luo

ISPAD and its role in the management of diabetes in the young in the Indian subcontinent and the Far East

Authors: Stephen Greene

Reproductive health knowledge, attitudes and beliefs in young women with type 1 diabetes mellitus aged 15 – 25 years attending a tertiary centre multidisciplinary transition clinic: A descriptive study

Authors: Jesuina Noronha, Philip Bergman, Carolyn Allan, Susan Sawyer, Christine Muske, John Taffe, Emma Hurley, Adam Lamendola and Christine Rodda

Genetic and functional study of StAR (steroidogenic acute regulatory protein) deficiency

Authors: Chan Jong Kim

Recent advances in management of phaeochromocytoma

Authors: Nalini S Shah

Diagnosis and management of rare forms of CAH

Authors: Taninee Sahakitrungruang

How databases inform clinical management – insights from ozgrow

Authors: Ian Hughes, Andrew Cotterill, Cathy Choong, Paul Hofman, Wayne Cutfield, George Werther, Maria Craig, Christopher Cowell and Mark Harris

1,5-Anhydroglucitol, an indicator of short term glycaemic control, is the most discriminatory metabolomic marker in adolescents with type 1 diabetes compared to control subjects

Authors: Louise S Conwell, Mark P Hodson, Panagiotis K Chrysanthopoulos, Ristan M Greer, Lars K Nielsen and Tracey Baskerville

The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis

Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid hormone synthesis.

Authors: Angela K Lucas-Herald, Martina Rodie, Laura Lucaccioni, David Shapiro, Jane McNeilly, M Guftar Shaikh and S Faisal Ahmed

Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence

Endocrinologic abnormalities are a common co-morbidity in patients with optic nerve hypoplasia (ONH), however the impact on puberty is unknown. The purpose of this study was to examine rates of endocrine dysfu...

Authors: Oliver J Oatman, Donald R McClellan, Micah L Olson and Pamela Garcia-Filion

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case...

Authors: Sophia Tahir, Lieve GJ Leijssen, Maha Sherif, Carla Pereira, Anabela Morais and Khalid Hussain

Congenital adrenal hyperplasia patient perception of ‘disorders of sex development’ nomenclature

As the benefits of patient-centered care have become more widely recognized, it is important to understand patients’ sentiments regarding aspects affecting their care. In an effort to display more sensitivity ...

Authors: Karen Lin-Su, Oksana Lekarev, Dix P Poppas and Maria G Vogiatzi

Congenital nystagmus and central hypothyroidism

We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mu...

Authors: Nele Reynaert, Elke Braat and Francis de Zegher

Psychological assessment of mothers and their daughters at the time of diagnosis of precocious puberty

Concerns about psychological distress are often used to justify treatment of girls with precocious puberty, but there is little evidence to support these concerns. The extent to which psychological problems ar...

Authors: Melissa J Schoelwer, Kelly L Donahue, Kristina Bryk, Paula Didrick, Sheri A Berenbaum and Erica A Eugster