A case series of a mother and two daughters with a gene deletion demonstrating variable expressivity and incomplete penetrance.

This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.

Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.

Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an acute gastroenteritis and multiple fluid boluses leading to intractable emesis. Gene testing reveals our patient is compound heterozygous for novel AQP2 gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659.

Inhaled corticosteroid related adrenal suppression detected by poor growth and reversed with ciclesonide.

Introduction: This case series intends to highlight the association between decreased linear growth velocity and adrenal suppression in patients receiving inhaled corticosteroids for asthma. A potential treatment option is also discussed. Adrenal suppression secondary to inhaled corticosteroids has previously been reported and is often underrecognized.

Endocrine emergencies: recognizing signs and symptoms.

Endocrine emergencies may present to the pediatric practitioner in the office setting in a variety of forms. Four of the more common pediatric endocrine emergencies (DKA, symptomatic hypoglycemia, adrenal insufficiency, and hypocalcemia) have been discussed here. The recommended approach to a child or adolescent with an endocrine emergency involves recognizing clinical disease, stabilizing the patient with basic and advanced life support intervention, and transferring the patient to a facility which can provide appropriate definitive care.