ESPE Abstracts

Background: Silver-Russell syndrome (SRS) is a heterogeneous condition characterized by intrauterine growth restriction, relative macrocephaly at birth, postnatal growth retardation, body asymmetry, feeding difficulties/ low body mass index and dysmorphic craniofacial features. SRS is caused by DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1) on chromosome 11p15 or maternal uniparental disomy of chromosome 7 (mUPD7) in approximately 50% and 10%, respectivel...

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

Background: Hypopituitarism is characterized by deficiency of one or more anterior pituitary hormones. POU1F1 mutations are the second most frequent known cause of combined pituitary hormone deficiency (CPHD). Patients are typically deficient in GH, TSH, and prolactin, although two unrelated cases were reported with isolated GH deficiency (IGHD). To date, all POU1F1 mutations have been reported for the predominantly expressed alpha isoform, which is a transcr...