Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

Background: Genetic variants in are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin.

Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.

Anti-Müllerian hormone and fertility in women after childhood cancer treatment: Association with current infertility risk classifications.

Background: To identify childhood cancer survivors (CCSs) at risk of premature ovarian insufficiency (POI) and impaired fertility is important given its impact on quality of life. The aim of this study was to assess ovarian markers and fertility outcomes in adult female CCSs. We used the Swedish and the PanCareLIFE classifications for infertility risk grouping.

Prevalence of refractoriness when testing growth hormone levels in children.

Objective: Late night spontaneous growth hormone (GH) pulses may influence the pituitary GH response to provocation tests. We evaluated GH response during arginine-insulin-tolerance test (AITT) after a GH peak during a short spontaneous nocturnal profile (SSNP) in children with short stature or low growth velocity.

Design: Using SSNP and subsequent AITT, we examined 257 children 4-18 years old (138 (53.

Non-functioning pituitary microadenoma in children and adolescents: Is follow-up with diagnostic imaging necessary?

Purpose: No consensus exists regarding follow-up recommendations for suspected pituitary microadenoma in children. To address this knowledge gap, we investigated the growth potential of pituitary solid and cystic lesions <10 mm in children and evaluated the accuracy of magnetic resonance imaging (MRI) measurements.

Methods: The children included were <18 years at first pituitary MRI and radiologically diagnosed with a non-functioning microadenoma or cyst <10 mm.

Postoperative growth rate affects time to growth arrest after percutaneous physiodesis: A radiostereometric analysis.

Purpose: The aim of this study was to determine the time at which physeal arrest is achieved after percutaneous physiodesis, and whether immediate postoperative growth rate affects the time to reach physeal arrest.

Methods: Radiostereometric analysis, with implantation of tantalum balls as radiographic markers on each side of the physes, was used to measure residual longitudinal growth in 21 children (10 boys and 11 girls) after percutaneous physiodesis for leg length discrepancy or extreme tall stature. In total, 25 femoral and 20 tibial physes were operated on.

Premature ovarian failure after childhood cancer and risk of metabolic syndrome: a cross-sectional analysis.

Objective: Female childhood cancer survivors (CCS) are at risk of several late effects, such as metabolic syndrome (MetS) and premature ovarian insufficiency (POI). The objective is to study if POI is associated with risk of MetS and increased cardiovascular risk in CSS.

Design: A cross-sectional study with a median time since the cancer diagnosis of 25 (12-41) years.

Quality of life among female childhood cancer survivors with and without premature ovarian insufficiency.

Purpose: Due to an increase in survival, a growing population of childhood cancer survivors (CCS) is present. However, female CCS are at risk of developing premature ovarian insufficiency (POI) after cancer treatment. POI involves a decreased chance of conceiving and the increased infertility state has a large impact on affected individuals' health and mental life.

Swedish national guideline for prevention and treatment of neonatal hypoglycaemia in newborn infants with gestational age ≥35 weeks.

Aim: Postnatal hypoglycaemia in newborn infants remains an important clinical problem where prolonged periods of hypoglycaemia are associated with poor neurodevelopmental outcome. The aim was to develop an evidence-based national guideline with the purpose to optimise prevention, diagnosis and treatment of hypoglycaemia in newborn infants with a gestational age ≥35 + 0 weeks.

Methods: A PubMed search-based literature review was used to find actual and applicable evidence for all incorporated recommendations.

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.

Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy.

Anti-müllerian hormone compared with other ovarian markers after childhood cancer treatment.

Background: Gonadal dysfunction is one of the major late complications after cancer diagnosis and treatment. The best markers of ovarian reserve in clinical practice are antral follicle count (AFC) and ovarian volume. We aimed to study the prevalence of premature ovarian insufficiency (POI) and evaluate anti-Müllerian hormone (AMH) and other serum markers for ovarian function in adult women who were childhood cancer survivors (CCS) in comparison with a control group.

Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study.

Context: Studies of the clinical and immunological features of autoimmune Addison disease (AAD) are needed to understand the disease burden and increased mortality.

Objective: To provide upgraded data on autoimmune comorbidities, replacement therapy, autoantibody profiles, and cardiovascular risk factors.

Design, Setting, And Participants: A cross-sectional, population-based study that included 660 AAD patients from the Swedish Addison Registry (2008-2014).

Severe gonadotoxic insult manifests early in young girls treated for Ewing sarcoma.

We prospectively investigated anti-Müllerian hormone (AMH) as a measure of ovarian insult in young females during and after treatment for Wilms tumor (WT), osteosarcoma (OS), and Ewing sarcoma (ES).Twenty-one female childhood cancer patients, with a mean age of 7.9 years (range 0.

Vaginal Bleeding in Prepubertal Girls: Etiology and Clinical Management.

Study Objective: We aimed to investigate the etiology and clinical management of vaginal bleeding in girls aged 0-9 years and to compare our results with previous publications. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: The records of all girls younger than 10 years of age who were seen between 2001 and 2011 at Skåne University Hospital Lund for vaginal bleeding were retrospectively collected.

Results: We identified 86 girls with vaginal bleeding.

Hypothalamic involvement predicts cognitive performance and psychosocial health in long-term survivors of childhood craniopharyngioma.

Context: Hypothalamic damage caused by craniopharyngioma (CP) is associated with poor functional outcome.

Objective: To assess cognitive function and quality of life in childhood-onset CP on hormonal replacement, including GH treatment.

Design: A cross-sectional study with a median follow-up time of 20 years (1-40).

Acute onset of ovarian dysfunction in young females after start of cancer treatment.

Background: Female childhood cancer survivors are at risk of ovarian failure and premature ovarian insufficiency. We hereby present an interim analysis of a prospective observational study of ovarian function during cancer treatment of young females in relation to clinical factors.

Procedure: Thirty-four consecutive female cancer patients aged 0-18 year were included after informed consent.

Evaluation of self-assessment of pubertal maturation in boys and girls using drawings and orchidometer.

Background: Self-assessment of puberty has been reported to correlate well with staging by a physician. No previous study has evaluated the use of an orchidometer to assess testicular size in boys.

Study Design: This study included 44 girls and 56 boys, 10-16 years old, with assessed Tanner staging.

Ectopic recurrence of a craniopharyngioma in a 15-year-old girl 9 years after surgery and conventional radiotherapy: case report.

This 15-year-old girl was operated due to an ectopic recurrence of a craniopharyngioma along the previous surgical route. She presented with a sellar craniopharyngioma at the age of 4 years and underwent a right subfrontal craniotomy. Two and a half years later she had a local recurrence in the sella that was resected along the same surgical route.

A nested case-control study of intrauterine exposure to persistent organochlorine pollutants in relation to risk of type 1 diabetes.

Background: The incidence of type 1 diabetes in Europe is increasing at a rate of about 3% per year and there is also an increasing incidence throughout the world. Type 1 diabetes is a complex disease caused by multiple genetic and environmental factors. Persistent organochlorine pollutants (POPs) have been suggested as a triggering factor for developing childhood type 1 diabetes.

Maternal enterovirus infection during pregnancy as a risk factor in offspring diagnosed with type 1 diabetes between 15 and 30 years of age.

Maternal enterovirus infections during pregnancy may increase the risk of offspring developing type 1 diabetes during childhood. The aim of this study was to investigate whether gestational enterovirus infections increase the offspring's risk of type 1 diabetes later in life. Serum samples from 30 mothers without diabetes whose offspring developed type 1 diabetes between 15 and 25 years of age were analyzed for enterovirus-specific immunoglobulin M (IgM) antibodies and enterovirus genome (RNA), and compared to a control group.

Number of islet autoantibodies present in newly diagnosed type 1 diabetes children born to non-diabetic mothers is affected by islet autoantibodies present at birth.

Objective: Cord blood islet autoantibodies in children born to mothers with type 1 diabetes may be associated with a reduced risk of islet autoimmunity and diabetes. The aim of this study was to investigate in children with type 1 diabetes but born to non-diabetic mothers whether islet autoantibodies at birth affected their presence at diagnosis.

Patients And Methods: Serum samples at birth and at diagnosis were available from 141 children who developed type 1 diabetes between 1 and 19 yr of age (median 9.

Islet autoantibodies in cord blood from patients who developed type 1 diabetes mellitus at 15-30 years of age.

Islet cell autoantibodies are early markers for type 1 diabetes. The aim of this study was to determine whether islet autoantibodies were present at birth in young adults who developed type 1 diabetes at 15-30 years of age. Cord blood sera from 30 patients who developed type 1 diabetes between 15 and 25 years of age and sera from 320 randomly selected control children were tested for islet cell antibodies (ICA) by indirect immunofluorescence and autoantibodies against the 65 kD isoform of glutamic acid decarboxylase (GADA), islet cell antigen-2 (IA-2A) and insulin (IAA) by radiobinding assays.

Islet cell autoantibodies in cord blood from children with blood group incompatibility or hyperbilirubinemia.

Blood group incompatibility is a risk factor for type 1 diabetes. Our aim was to test the hypothesis that islet cell autoantibodies, as markers for beta cell autoimmunity, are increased in cord blood from newborns with a diagnosis of blood group incompatibility. Using the diagnosis register of the Malmö University Hospital we obtained cord blood from 151 children with ABO immunization, 311 children with hyperbilirubinemia and a control group of 320 other children born during the same time period.