hrp0092p3-325 | Late Breaking Abstracts | ESPE2019

45X/47XXX Mosaicism and Progressive Puberty

liu ziqin , chen xiaobo

Objective: To report a case girl with 45X/47XXX mosaic Turner syndrome exhibiting a progressive puberty.Design: Case reportResult: A 9 years 4 months old girl was presented with growth retardation. Chromosome analysis revealed a mosaic karyotype 45X/47XXX. She presented with normal height but much lower than the mid-parental height. During annual check-ups, her growth rate was acce...

hrp0092p3-324 | Late Breaking Abstracts | ESPE2019

Hypoglycemia in a Patient with Turner Syndrome and Kabuki Make-Up

liu ziqin , chen xiaobo , gao kang

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...