Endocrine Abstracts

Background: Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis (1). Children with hypophosphatemic rickets present poor growth, deformities of weight-bearing limbs such as genu varum or valgus, a ‘rachitic rosary’ invo...

Pituitary stalk interruption syndrome (PSIS) is a rare clinical entity characterised by an absent or thin pituitary stalk, hypoplasia of the anterior pituitary gland, and ectopic location of the posterior pituitary on magnetic resonance imaging (MRI). Presentation is on early childhood or puberty and the most common hormonal deficiencies are growth hormone (GH) and gonadotropines. We present the case of a 28-year-old female patient who consulted after 2 years in secondary amen...