Novel compound heterozygous mutations of PCNT gene in MOPD type II with central precocious puberty.

We report on a 6-year and 11-month old girl with short stature, microcephaly, proboscis nose, small teeth, left breast Tanner stage II, and nasopharynx adenoid hypertrophy. Her gestational age was 37 weeks and birth weight was 800 g. Her growth hormone peak was higher than 35.2 ng/ml, luteinizing hormone peak 8.97 IU/l, and blood glucose of 120 min 7.82 mmol/l in oral glucose tolerance test. Genetic testing revealed two novel heterozygous mutations in the PCNT gene, an insertion mutation at c.1828dupT (p.S610Ffs*32), and a splice site mutation at c.1207 + 1G>A, which were inherited from healthy carrier patients. This case shows that MOPDII can be associated with central precocious puberty and impaired glucose tolerance in addition to intrauterine growth restriction, postpartum growth defect, and microcephaly.