A case series of a mother and two daughters with a GLI2 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. Therefore, we report a novel AQP2 gene mutation in an adolescent patient which is outside the common age for diagnosis.

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. A decrease in linear height velocity has also been associated with inhaled corticosteroids. However, a decrease in height velocity has not been shown to predict adrenal suppression. CASE STUDY: This case series of 15 patients receiving inhaled corticosteroids for control of asthma were noted to have a decrease in linear growth velocity ultimately associated with adrenal suppression. A change in inhaled corticosteroid to ciclesonide led to recovery of adrenal function without impacting asthma control. RESULTS: Chart review from a pediatric pulmonology clinic was performed. Growth parameters and laboratory studies were recorded and analyzed. A mean decrease in height standard deviation score in the year prior to diagnosis of adrenal suppression was -0.59, -0.11, and -0.18, in pre-puberty, peri-puberty, and post-puberty patients, respectively. After ciclesonide therapy was initiated, a mean change in height standard deviation score of +0.40, +0.13, and -0.13, was noted for pre-puberty, peri-puberty, and post-puberty patients, respectively. A change in growth velocity of +5.3 cm/yr, +2.1 cm/yr, and -1.9 cm/yr, was noted for pre-puberty, peri-puberty, and post-puberty patients, respectively, after starting ciclesonide. CONCLUSIONS: Height velocity should be monitored closely during routine asthma visits to identify potential adrenal suppression associated with inhaled corticosteroids use. Ciclesonide is a good option for asthma treatment that allows for adrenal recovery.

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.