National service evaluation of the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: survey responses from patients and clinicians.

Introduction: Quantifying differences in service provision for children and young people (CYP) living with Congenital Adrenal Hyperplasia (CAH) across the United Kingdom.

Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the "Living with CAH" support group mailing list.

Results: Total of 195 responses relating to patients aged 0-20 years attending 33 clinics (43 patients, 152 carers), as well as 34 clinicians from 18 trusts working across the 33 clinics.

Type 1 diabetes incidence in Scotland between 2006 and 2019.

Aims: To describe type 1 diabetes incidence in Scotland between 2006 and 2019.

Methods: Repeated annual cross-sectional studies of type 1 diabetes incidence were conducted. Incident cases were identified from the Scottish Care Information-Diabetes Collaboration (SCI-DC), a population-based register of people with diagnosed diabetes derived from primary and secondary care data.

Relation of Incident Type 1 Diabetes to Recent COVID-19 Infection: Cohort Study Using e-Health Record Linkage in Scotland.

Objective: Studies using claims databases reported that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection >30 days earlier was associated with an increase in the incidence of type 1 diabetes. Using exact dates of diabetes diagnosis from the national register in Scotland linked to virology laboratory data, we sought to replicate this finding.

Research Design And Methods: A cohort of 1,849,411 individuals aged <35 years without diabetes, including all those in Scotland who subsequently tested positive for SARS-CoV-2, was followed from 1 March 2020 to 22 November 2021.

Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom.

Objective: Diazoxide is first-line treatment for hyperinsulinaemic hypoglycaemia (HH) but diazoxide-induced pulmonary hypertension (PH) can occur. We aim to characterize the incidence and risk factors of diazoxide-induced PH in a large HH cohort to provide recommendations for anticipating and preventing PH in diazoxide-treated patients with HH.

Design And Patients: Retrospective cohort study involving four UK regional HH centres; review of case notes of HH patients on diazoxide.

Barriers and facilitators to taking on diabetes self-management tasks in pre-adolescent children with type 1 diabetes: a qualitative study.

Background: When children with type 1 diabetes approach adolescence, they are encouraged to become more involved in diabetes self-management. This study explored the challenges pre-adolescent children encounter when self-managing diabetes and the factors which motivate and enable them to take on new diabetes-related tasks. A key objective was to inform the support offered to pre-adolescent children.

Hormone supplementation for pubertal induction in girls.

Pubertal induction in girls with ovarian insufficiency aims to mimic normal puberty, a highly complex process. Here we amalgamate the sparse global evidence and propose three options for pubertal induction regimens including oral ethinyloestradiol, and oral and transdermal 17β-oestradiol. The introduction of progestogens is discussed and the transition to hormone supplementation for adult women.

A Validated Normative Model for Human Uterine Volume from Birth to Age 40 Years.

Transabdominal pelvic ultrasound and/or pelvic Magnetic Resonance Imaging are safe, accurate and non-invasive means of determining the size and configuration of the internal female genitalia. The assessment of uterine size and volume is helpful in the assessment of many conditions including disorders of sex development, precocious or delayed puberty, infertility and menstrual disorders. Using our own data from the assessment of MRI scans in healthy young females and data extracted from four studies that assessed uterine volume using transabdominal ultrasound in healthy females we have derived and validated a normative model of uterine volume from birth to age 40 years.

Improving communication and recall of information in paediatric diabetes consultations: a qualitative study of parents' experiences and views.

Background: Parents of non-adolescent children with type 1 diabetes are responsible for most of their child's diabetes management tasks. Consultations are used to provide diabetes education, review clinical progress and promote diabetes management tasks. This study explored parents' experiences of, and views about, their child's diabetes consultations.

Pathways to diagnosis: a qualitative study of the experiences and emotional reactions of parents of children diagnosed with type 1 diabetes.

Objective: The aim of this study was to explore from parents' perspectives the circumstances and events which led to their child being diagnosed with type 1 diabetes (T1D). The objective was to understand reasons for delays in seeking treatment and parents' emotional reactions to diagnosis so others can be better informed and supported in future.

Methods: In-depth interviews with 54 parents of children (aged ≤12 yr) with T1D were conducted.

Prevalence of impaired awareness of hypoglycemia and identification of predictive symptoms in children and adolescents with type 1 diabetes.

Background: In children with type 1 diabetes mellitus (T1DM) the prevalence of impaired awareness of hypoglycemia (IAH) is uncertain. This study aimed to ascertain this with greater precision. Secondary aims were to assess symptoms of hypoglycemia and which of these best predict awareness of hypoglycemia in children.

Quantification of human urinary exosomes by nanoparticle tracking analysis.

Exosomes are vesicles that are released from the kidney into urine. They contain protein and RNA from the glomerulus and all sections of the nephron and represent a reservoir for biomarker discovery. Current methods for the identification and quantification of urinary exosomes are time consuming and only semi-quantitative.

Proptosis as the presenting sign of giant prolactinoma in a prepubertal boy: successful resolution of hydrocephalus by use of medical therapy.

We report the case of a 13-year-old prepubertal boy who presented with a left-sided proptosis, bilateral papilloedema and hydrocephalus who was subsequently diagnosed with a giant prolactinoma invading the left orbit. He was commenced on dopamine receptor agonists in the form of quinagolide and cabergoline, and made an excellent response to medical therapy alone, with resolution of hydrocephalus, restoration of normal vision and a 98% reduction in serum prolactin. The rapid improvement achieved negated the requirement for surgery and this highlights the efficacy of the dopamine agonists in the management of giant prolactinomas, even in the presence of neurological symptoms.

Assessing and addressing cardiovascular risk in adults with Turner syndrome.

Unlabelled: Turner syndrome (TS), the result of a structurally abnormal or absent X chromosome, occurs in one in 2 000 live born females. The phenotype is highly variable, but short stature and gonadal dysgenesis are usually present. The main objective in adults with TS is health surveillance, but TS still causes a reduction in life expectancy of up to 13 years, with cardiovascular disease, congenital or acquired, as the major cause of an early death.

Physiological versus standard sex steroid replacement in young women with premature ovarian failure: effects on bone mass acquisition and turnover.

Background: The aim of this exploratory study was to establish whether we could improve skeletal health with a physiological regimen of SSR in young women with premature ovarian failure (POF).

Patients And Methods: In an open-label randomized controlled crossover trial, 34 women with POF were randomized to 4-week cycles of pSSR (transdermal oestradiol, 100 μg daily for week 1, 150 μg for weeks 2-4; vaginal progesterone, 200 mg twice daily for weeks 3-4) or standard hormone replacement treatment (sHRT) (oral ethinyloestradiol 30 μg and 1·5 mg norethisterone daily for weeks 1-3, week 4 'pill-free') for 12 months. Bone mineral density (BMD) was measured by DEXA at study entry and after each 12-month treatment period.

Cardiovascular effects of physiological and standard sex steroid replacement regimens in premature ovarian failure.

Current hormone replacement therapy may not optimize cardiovascular health in women with premature ovarian failure. We compared the effects of physiological and standard sex steroid replacement regimens on cardiovascular health in these women. In an open-label, randomized, controlled crossover trial, 34 women with premature ovarian failure were randomly assigned to 4-week cycles of physiological (transdermal estradiol and vaginal progesterone) and standard (oral ethinylestradiol and norethisterone) therapy for 12 months.

Audit of microalbumin excretion in children with type I diabetes.

Objective: To investigate prevalence, persistence and clinical correlates of increased microalbumin excretion in random urine samples collected in a paediatric diabetes clinic.

Method: Random urine samples were collected annually in patients >10 years attending the diabetes clinic in the Royal Hospital for Sick Children, Edinburgh. Albumin excretion is expressed as albumin:creatinine ratio (ACR) and classified as normal (10 mg/mmol), or macroalbuminuria (>47 mg/mmol in females, >35 mg/mmol in males).

Hydroxybutyrate near-patient testing to evaluate a new end-point for intravenous insulin therapy in the treatment of diabetic ketoacidosis in children.

Background: The aim of this study was to assess the clinical application of a near-patient testing (NPT) device for capillary blood hydroxybutyrate (HOB) measurement in evaluating a new end-point for intravenous insulin therapy in the treatment of diabetic ketoacidosis (DKA) in children.

Methods: Children fulfilling the criteria for DKA were treated according to an integrated care pathway (ICP) with fluid replacement and insulin infusion. We measured capillary HOB hourly by NPT (Abbott Optium meter, analytical range 0-6.

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.

PPARgamma is essential for adipogenesis and metabolic homeostasis. We describe mutations in the DNA and ligand binding domains of human PPARgamma in lipodystrophic, severe insulin resistance. These receptor mutants lack DNA binding and transcriptional activity but can translocate to the nucleus, interact with PPARgamma coactivators and inhibit coexpressed wild-type receptor.

Bone Turnover and Growth during and after Chemotherapy in Children with Solid Tumors.

Children who are treated for malignancy have been shown to have decreased bone mineral density. We investigated the effect of serial courses of chemotherapy on growth and bone turnover in children with solid tumors. We measured height, weight, and lower leg length (LLL; n = 10) and markers of bone formation [bone alkaline phosphatase (BALP) and C-terminal propeptide of type I collagen (P1CP)], bone resorption [C terminal telopeptide of type I collagen (1CTP)], soft tissue collagen turnover [N-terminal propeptide of type III procollagen (P3NP)], and the GH axis [IGF1 and its binding proteins (IGFBP3 and IGFBP2)] before and after each course (n = 25) and on completion of treatment (n = 12).

Radiation damage to the uterus -- review of the effects of treatment of childhood cancer.

At the present time approximately 1 in 1000 young people aged between 16 and 35 years will have been cured of cancer in childhood and some of the treatment regimens used will have predictable effects on their future fertility prospects. In young women who have been exposed to radiotherapy below the diaphragm, the reproductive problems include the risk of ovarian failure and significantly impaired development of the uterus. The magnitude of the risk is related to the radiation field, total dose and fractionation schedule.