High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated individuals with hypopituitarism that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor.

Diagnosis and Clinical Course of Three Adolescents with Amiodarone-Induced Hyperthyroidism.

Amiodarone-induced hyperthyroidism is a known side effect of amiodarone treatment. In the pediatric population, long-term amiodarone treatment is rarely indicated because of its severe side effects including thyroid function impairment. Treatment is therefore restricted to therapy-resistant arrhythmias.

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-α regulatory subunit and acrodysostosis type 2 caused by mutations in phosphodiesterase 4D (PDE4D). Most cases are sporadic.

How early can one diagnose Cushing's disease? An early diagnosis in a case of prepubertal Cushing's disease.

Background: Cushing's disease is very rare in children, and the diagnosis is frequently delayed by several years.

Objective: We report a case of prepubertal Cushing's disease with a medical history of only 9 months. This case illustrates the difficulties involved in diagnosing children at the early stage of the disease.

Differences between students and physicians in their entitlement towards procedural skills education--a needs assessment of skills training in internal medicine.

Objective: Procedural skills education has a high priority for medical students. However, it is not clear what kind of skills they consider important and whether their perception differs from the physicians' view.

Methods: We conducted a survey on 26 skills in internal medicine among medical students and physicians.