Endocrine Abstracts

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.Objective: To evaluate body composition in adults with SRS. Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated ...

Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal...

The classical features of Silver-Russell syndrome (SRS) appear to become less pronounced with increasing age. Small-for-gestational-age (SGA) birth is associated with adult metabolic syndrome. SRS is associated with SGA but the adult sequelae and long-term effects of childhood growth hormone (GH) treatment are unclear.Objective: To determine the phenotype and cardio-metabolic profile in older individuals with SRS and compare individuals previously untrea...

Childhood short stature in Silver-Russell syndrome (SRS) is frequently treated with growth hormone (GH), however final height and long-term body mass index (BMI) data are limited.Objective: To assess height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and Ger...