The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th25th 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 associated with fever or any sign of infection. She was found extremely hypoglycemia with a blood glucose concentration of 1.8mmol/l(range 3.35.5mmol/l) . Her length was 67cm(<p3< span="">), weight was 6.7kg(<p3< span="">), head circumference was 43cm. BMI was 14.92kg/m2, blood pressure: 80/50mmHg. She had special facial features reminiscent of the Kabuki syndrome, eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed, a depressed nasal tip, and prominent ears. She showed widely spaced nipples and cubitus valgus. </p3<></p3<>
Laboratory examination: ALT 34u/l (0-40); AST 48u/l (0-40); Creatine 48umol/l(32.3-54.2), Electrolytes: normal. Blood gas analysis: PH 7.44, PCO2 29.6mmHg, HCO3 22.4mmol/L, BE -0.6mmol/L. Results of the hormones at the time of hypoglycemia(fasting test, plasma glucose1.8(mmol/L)) as follows: Free fatty acids 0.3 (mmol/L); urine ketone bodies: Negative; plasma lactate 1.8(mmol/L)(normal<2); Serum ammonia 52.2(μmol/L) (normal<80) ; serum insulin levels 2.9 mU/L, serum cortisol 281mmol/L, adrenocorticotropic hormone 202pg/mL; serum growth hormone 5.5ng/ml; serum free thyroxine12ug/dl (normal 10.8-20); HbA1C4.2%(normal 4-6); luteinizing hormoe7.92IU/L; follicle-stimulate hormone93.64IU/L; estrogen<18.35pg/ml. Electroencephalogram (EEG) result did not show any abnormalities. Brain MRI: no abnormalities. Pituitary stalk integrity. Echocardiography: show no evidence of congenital heart disease. Her 72-hr blood glucose profile was abnormal (lowest 2.1mmol/L; highest 5.9mmol/L; time of duration <2.9mmol/L:5hours) Her hypoglycemic screen showed inappropriately raised, given these biochemical features she was diagnosed with hyperinsulinemic hypoglycemia.
No typical mutations in the genes ABCC8, GLUD1, KCNJ11, GCK which are associated with hypoglycemia, were identified by NGS. Cytogenetic analysis revealed 2 cell lines: 50% showed a single normal X chromosome and a marker chromosome, mos46, X, +mar ;50% had just a single normal X chromosome.
She was given the diagnosis of Turner syndrome, clinical manifestations reminiscent of Kabuki syndrome was because of KDM6A mutation.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology