ESPE Abstracts

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

Background: In the past decades Brazil has experienced a nutritional transition process characterised by a significant reduction in malnutrition and progressive increase in overweight and obesity. Nutritional education and precocious interventions are useful strategies to combat excess weight in childhood and adolescence. According to the World Health Organization (WHO), there were more than 40 million children overweight in the world in 2011. In Brazil, the prevalence of exce...

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

Background: Consultations for infantile hypercalcaemia have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

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