ESPE Abstracts

Background: Renal tubular acidosis (RTA) is an uncommon cause of growth failure and rickets. In Haiti, diagnostic evaluation and management is challenged by limited access to comprehensive diagnostic tools.Case presentation: An 8-year-old Haitian girl was evaluated at an academic referral center for bony deformations and bone pain, progressive over the previous six years. Her 2.5 year-old sister presented similar symptoms, associated with dental caries a...

Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penil...

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

Background: GH deficiency type IA represents the most serious form of isolated deficit GH (IDGH). It’s transmitted as an autosomal recessive pattern and in most cases there is a homozygous deletion of the GH1 gene. Good initial response to treatment is characteristic, although often could appear antibodies against recombinant GH.Case presentation: We report a case of a 5-year-old Pakistanist boy evaluated for severe growth failure (heigh <8.07 <...

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...

Background: Severe early-onset obesity (SEOO) in children is more frequently observed in subjects with genetic disorders of which those of leptin pathway can be analyzed biochemically and genetically.Objectives: The aim of the study was to investigate anthropometrics and leptin parameters, specifically searching for bio-inactive leptin, in children with SEOO.Methods: Study cohort includes children ...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...