Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH).

Many adolescents with X-linked hypophosphatemia (XLH) currently have to stop treatment with burosumab at the end of skeletal growth. We describe the experience of a cohort of adolescents with XLH before, during, and after stopping burosumab (median treatment duration 37.5 months).

Baseline and Peak Cortisol Response to the Low-Dose Short Synacthen Test Relates to Indication for Testing, Age, and Sex.

Context: Meta-analyses report that the low dose short Synacthen test (LDSST) is more sensitive but less specific than the standard dose test for the diagnosis of adrenal insufficiency, and there are concerns regarding the accuracy of dosing in the LDSST.

Objective: Perform a retrospective, observational study to review the outcomes of LDSSTs performed in a tertiary endocrine service from 2008 to 2014 (N = 335) and 2016 to 2020 (N = 160), and examine for relationships between cortisol measurements and indication for testing, age and sex.

Methods: LDSST were performed by endocrine nurses.

Effect of Growth Hormone Therapy in Patients with Noonan Syndrome: A Retrospective Study.

Background: Noonan syndrome is an autosomal dominant condition with an incidence of 1:1000 to 1:2500. The disorder is associated with distinct dysmorphic features, cardiac anomalies, developmental delay and delayed puberty. Short stature is a recognised feature of Noonan syndrome.

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations.

X-linked hypophosphataemia (XLH) is caused by a pathogenic variant in the PHEX gene, which leads to elevated circulating FGF23. High FGF23 causes hypophosphataemia, reduced active vitamin D concentration and clinically manifests as rickets in children and osteomalacia in children and adults. Conventional therapy for XLH includes oral phosphate and active vitamin D analogues but does not specifically treat the underlying pathophysiology of elevated FGF23-induced hypophosphataemia.

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).

Context: Familial hypocalciuric hypercalcemia type 1 (FHH1) is caused by loss-of-function mutations of the calcium-sensing receptor (CaSR) and is considered a benign condition associated with mild-to-moderate hypercalcemia. However, the children of parents with FHH1 can develop a variety of disorders of calcium homeostasis in infancy.

Objective: The objective of this work is to characterize the range of calcitropic phenotypes in the children of a mother with FHH1.

Obesity is common at diagnosis of childhood pituitary adenoma and may persist following successful treatment.

Objective: There is a paucity of data describing long-term outcomes of paediatric patients with pituitary adenoma. In this report, we describe clinical features, treatment and outcomes of a paediatric cohort.

Design: Retrospective cohort study.

Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.

Background: Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features. The aim of the study was to determine the age and clinical features at the time of presentation and to identify potential delays in diagnosis of TS.

Hypercalcaemic Pancreatitis, Adrenal Insufficiency, Autoimmune Thyroiditis and Diabetes Mellitus in a girl with Probable Sarcoidosis.

Introduction: Sarcoidosis is a multisystemic granulomatous disease with diverse and often non-specific symptoms during childhood. The clinical manifestations sometimes include endocrinopathies related to sarcoid infiltration of various endocrine organs, but more commonly due to the associated autoimmune endocrine disorders. There are only a few reports of multiple autoimmune and non-autoimmune endocrine problems occurring simultaneously in patients with sarcoidosis.

Recovery of hypothalamo-pituitary-adrenal axis suppression during treatment with inhaled corticosteroids for childhood asthma.

Objective: To describe recovery of adrenal insufficiency in asthmatic children treated with inhaled corticosteroids (ICS) and cortisol replacement therapy.

Design: Retrospective, observational study.

Patients: A total of 113 patients, 74 male; age 10.

Testosterone Therapy Improves the First Year Height Velocity in Adolescent Boys with Constitutional Delay of Growth and Puberty.

Background: Constitutional delay of growth and puberty (CDGP) can cause significant psychological distress in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity has not been widely reported.

Objectives: The aim is to determine whether testosterone treatment improves the first year height velocity in boys with CDGP when compared to boys with CDGP who go through puberty spontaneously.

Denosumab Therapy for Refractory Hypercalcemia Secondary to Squamous Cell Carcinoma of Skin in Epidermolysis Bullosa.

Hypercalcemia secondary to malignancy is rare in children and the majority is caused by tumor-produced parathyroid hormone-related protein (PTHrP). We report a case of hypercalcemia refractory to bisphosphonate and corticosteroid therapy, but responsive to denosumab. A 17-year-old boy with epidermolysis bullosa (EB) and advanced squamous cell carcinoma (SCC) of the left leg was referred with severe hypercalcemia (serum calcium, 4.

Vaccines for preventing influenza in people with cystic fibrosis.

Background: Viral respiratory tract infections in people with cystic fibrosis have a deteriorating effect on their lung function and disease progression. Annual influenza vaccination is therefore commonly recommended for people with cystic fibrosis.

Objectives: To assess the effectiveness of influenza vaccination for people with cystic fibrosis.

Vaccines for preventing influenza in people with cystic fibrosis.

Background: Viral respiratory tract infections in people with cystic fibrosis (CF) have a deteriorating effect on their lung function and disease progression. Annual influenza vaccination is therefore commonly recommended for people with CF.

Objectives: To assess the effectiveness of influenza vaccination for people with CF.