ESPE Abstracts

Background: There is growing concern about the impact of eating disorders on the bone heath during adolescence where peak bone mass acquisition is of paramount importance.Method: A total of 85 patients (77F/8M, 75% anorexia nervosa(AN) and 25% atypical eating disorder), median age 15.2 years (range, 10.9–19.8) and median BMI SDS −1.3 (−4.7 to 0.8) attended the bone densitometry service between Jan 2009 and Dec 2013 for total body (TB) an...

Background: During fetal development, the reproductive tissues of a male and female are initially identical until around 7 weeks of gestation. At this point, chromosomal sex dictates the development of a testis or ovary which in turn drives phenotypic sex of the individual. This involves a pre-programmed series of events which results in the differentiation of the indifferent reproductive tissues into sex-specific organs. The brain must also undergo sex-specific development wh...

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...

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...

Rationale: Bronchopulmonary dysplasia (BPD) is a major complication of preterm birth, which pathophysiology involves systematic inflammation. Preterm infants commonly suffer from relative adrenal insufficiency (RAI) in their first week of life, resulting in an insufficient production of cortisol inappropriate for the degree of inflammation. One of the major causes of RAI is immaturity of adrenal cortex enzymes, leading to an accumulation of cortisol precursors...

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic/genetic changes affecting imprinted genes in 11p15.5 region. Phenotypic expression is variable. Hyperinsulinaemic hypoglycaemia is common (30-60%). Persistent, severe, refractory cases are usually associated with 11p15 paternal uniparental disomy, particularly the rare context of a coexisting paternal inactivating KATP channel variant. Those c...

Background: Alström syndrome (AS) is a rare genetic ciliopathy characterized by severe early-onset obesity, hyperphagia, retinal dystrophy, hearing loss, and cardiomyopathy. Rodent studies suggest that cilia play an important role in the leptin-MC4R pathway, which regulates energy balance and body weight. Setmelanotide, a peptide agonist of the MC4R, has led to weight loss in individuals affected by other rare genetic obesity disorders resulting from dysfunction in this p...

Background: The hypothalamic leptin–melanocortin signalling pathway is a critical regulator of human appetite and weight regulation. Monogenetic defects in the POMC gene, the MSH ligand generating PC1 gene and the MSH receptor gene MC4R lead to severe early onset and leptin-resistant obesity. In PWS, where the function of genes such as MAGEL2 are impaired, the Magel2-/- mouse model revealed decreased POMC neuronal functioning as one c...