A personal series of 100 children operated for Cushing's disease (CD): optimizing minimally invasive diagnosis and transnasal surgery to achieve nearly 100% remission including reoperations.

Background Transnasal surgery (TNS) is the first choice in the treatment of pediatric Cushing's disease. The question is how can high remission rates be achieved with minimally invasive investigations and TNS whilst avoiding radiotherapy or bilateral adrenalectomy in children. Methods Data from a published series 1 (n=55) of surgeon DKL will be compared with his recent series 2 (n=45) until 2009.

Recurrences of Pituitary Adenomas or Second De Novo Tumors: Comparisons with First Tumors.

Background: Recurrences of pituitary adenomas are not so rare.

Methods: In the German Registry of Pituitary Tumors, more than 12,000 surgical specimens were collected between 1967 and 2012, of which 312 patients with altogether 334 recurrences (n = 646 specimens) were included in our study.

Results: The histopathology of 162 recurrent adenomas could be compared with the original tumor and 37 second recurrences could be compared with the first recurrence.

Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies are a characteristic feature of APS1 and are often associated with particular disease manifestations. Pituitary deficits are reported in up to 7% of all APS1 patients, with immunoreactivity to pituitary tissue frequently reported.

Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens.

Objective: Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m/week) in very young children with Prader-Willi Syndrome (PWS).

Design: Prospective longitudinal clinical intervention.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Background: Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect a wide range of organs derived from the neuroectoderm. The key diagnostic feature is sparse, brittle, sulfur deficient hair that has a 'tiger-tail' banding pattern under polarising light microscopy.

Patients And Methods: We describe two male cousins affected by TTD associated with microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis.

A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature.

Pituitary infarction or apoplexy with spontaneous cure of the underlying pituitary adenoma is rare. In the paediatric population, we found only a few reported cases. We report a rare case of pituitary infarction progressing to CSF-sella syndrome (or empty sella) in an 11-year-old girl.

Population-based incidence of diabetes in Australian youth aged 10-18 yr: increase in type 1 diabetes but not type 2 diabetes.

Background: Global incidence of childhood type 2 diabetes has increased, with a greater rise amongst certain ethnic groups.

Objectives: To examine the change in the incidence of type 1 and type 2 diabetes in Australian youth, aged 10-18 yr, in New South Wales, Australia.

Methods: Prospective population-based incidence study (2001-2008).

Non-invasive detection of microvascular changes in a paediatric and adolescent population with type 1 diabetes: a pilot cross-sectional study.

Background: The detection of microvascular damage in type 1 diabetes is difficult and traditional investigations do not detect changes until they are well established. The purpose of this study was to investigate the combined ability of nailfold capillaroscopy, laser Doppler flowmetry, retinal vessel analysis and 24-hr ambulatory blood pressure monitoring to detect early microvascular changes in a paediatric and adolescent population with type 1 diabetes.

Methods: Patients aged between 8 - 18 years with type I diabetes and no other autoimmune conditions were studied.

Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis.

Lymphocytic hypophysitis is an organ-specific autoimmune disease characterised by destruction of pituitary hormone-secreting cells due to attack by self-reactive T lymphocytes. The spectrum of pituitary autoantibodies characterised by indirect immunofluorescence (IF) in these patients has not been substantially defined. The purpose of this study was to determine the spectrum of pituitary autoantibodies in 16 lymphocytic hypophysitis patients.

Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays.

Background: Lymphocytic hypophysitis is an organ-specific autoimmune disease of the pituitary gland. A specific and sensitive serological test currently does not exist to aid in the diagnosis.

Objective: To identify target autoantigens in lymphocytic hypophysitis and develop a diagnostic assay for these proteins.

Changes in altitude cause unintended insulin delivery from insulin pumps: mechanisms and implications.

Objective: Children and adults with type 1 diabetes who receive insulin pump therapy have reported hypoglycemia during air travel. We studied the effects of atmospheric pressure on insulin pump delivery.

Research Design And Methods: Ten insulin pumps were connected to capillary tubes.

Increased detection of cystic-fibrosis-related diabetes in Australia.

Objectives: To estimate the incidence of cystic-fibrosis-related diabetes (CFRD) in youth from New South Wales (NSW) and the Australian Capital Territory (ACT), Australia and to examine demographic/clinical features at diagnosis.

Methods: Incident cases of CFRD in young people aged ≤ 18 years diagnosed during 2000 to 2008 were identified from four paediatric cystic fibrosis (CF) clinics and the NSW/ACT Australasian Paediatric Endocrine Group Diabetes Register.

Results: CFRD was diagnosed in 41 cases (59% girls).

Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome.

Introduction: It has been postulated that central adrenal insufficiency (CAI), resulting from hypothalamic dysfunction, may contribute to the increased unexplained death rates in Prader Willi syndrome (PWS). A study using the overnight metyrapone test reported a 60% prevalence of CAI in children with PWS. We used a low-dose Synacthen test to screen for CAI in children with PWS.

The A, B, C, D of hypercalcaemia in Down syndrome.

Hypercalcaemia in infants with Down syndrome is an uncommon condition with only five previous case reports. The patients often present in the toddler years with the classical triad of Down syndrome, biochemical hypercalcaemia, and nephrocalcinosis. We present the sixth case and second male with this condition and further review the clinical details of this under-recognised condition and stratify the diagnostic criteria.

Pituitary autoantibodies in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease due to mutations in the AIRE (AutoImmune REgulator) gene. The role of pituitary autoimmunity in APECED is not known. We determined the prevalence of pituitary autoantibodies in a cohort of 67 Finnish patients with APECED from 217 serum samples collected over 26 years by one investigator.

Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1.

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies (Aabs) toward intracellular enzymes are a hallmark for APS1 and serve as diagnostic markers and predictors for disease manifestations. In this study, we aimed to identify pituitary autoantigens in patients with APS1.

Phenotype-genotype correlations in a series of wolfram syndrome families.

Objective: Wolfram syndrome is an extremely rare autosomal-recessive disorder that predisposes the development of type 1 diabetes in association with progressive optic atrophy. The genetic basis of this disease has been shown to be due to mutations in the WFS1 gene. The WFS1 gene encodes a novel transmembrane protein called wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic beta-cells and neurons.

Sudden death in growth hormone-treated children with Prader-Willi syndrome.

A 4-year-old boy with Prader-Willi syndrome died suddenly while asleep on day 67 of growth hormone treatment. During treatment, snoring had worsened. Autopsy showed multifocal bronchopneumonia.

A compound heterozygote case of type II aldosterone synthase deficiency.

An infant with failure to thrive, persistent hyponatremia and episodic vomiting and diarrhea was admitted to hospital at 9 months of age, and the diagnosis of type II aldosterone synthase deficiency was confirmed by plasma and urinary steroid determinations. The entire coding sequence of the aldosterone synthase gene (CYP11B2) was determined (both strands) in the affected infant, an unaffected sibling, and both parents. An exon 3 mutation (C554T, leading to amino acid T185I) was found in the father and both siblings, and an exon 9 mutation (A1492G, leading to T498A) was found in the affected infant and the mother.

Pituitary autoimmunity in patients with Sheehan's syndrome.

Postpartum hemorrhage (PPH) is a frequent complication of pregnancy in India. Sheehan's description of postpartum hypopituitarism promoted the belief that PPH leads to necrosis of the enlarged pituitary gland of pregnancy and hypopituitarism. However, slow clinical progression suggests factors other than ischemia in its pathogenesis.

Identification of the 49-kDa autoantigen associated with lymphocytic hypophysitis as alpha-enolase.

Lymphocytic hypophysitis is part of the spectrum of organ-specific autoimmune diseases, and although its histopathology is well documented, its pathogenesis is unclear. Serum autoantibodies directed against a 49-kDa cytosolic protein are detected by immunoblotting in 70% of patients with biopsy-proven lymphocytic hypophysitis. Here we report the purification and identification of this first target autoantigen in lymphocytic hypophysitis.