hrp0097p2-20 | Growth and Syndromes | ESPE2023

Temple Syndrome in monozygotic twins with GH and GnRHa treatment in one twin.

Lattanzi Claudia , Wilson Louise , Gevers Evelien

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height ...

hrp0094p1-13 | Bone A | ESPE2021

Characterisation and phenotype-genotype associations of a large cohort of patients with pseudohypoparathyroidism type 1A and 1B

Prentice Philippa , Wilson Louise , Gevers Evelien , Buck Jackie , Raine Joseph , Rangasami Jayanti , McGloin Helen , Peters Catherine , Amin Rakesh , Gan Hoong-Wei , Brain Caroline , Dattani Mehul , Allgrove Jeremy ,

We characterised the phenotype of PHP patients at two UK tertiary care centres and investigated phenotype-genotype correlations.Method: Retrospective review of case notes for patients with PHP at two UK tertiary care centres.Results: 55 patients, from 41 kindreds, were identified; 32 with PHP1a, 23 with PHP1b. The PHP1a cohort (56% female, 69% White), currently aged 16.7+/-10.6 years, presented at ...