A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection

To the Editor: A 15-year-old girl from Chengdu (Sichuan province, China) came to our hospital in December 2019. Hermother stated that the girl’s bodywas thin since shewas 3 years old, but no other abnormalities were noted. She visited the hospital because of developing tinnitus and hearing loss over the last 5 months. On admission, it was found that she had low subcutaneous fat and particular facial features, including small jaw, thin lips, mandibular dysplasia, and crowded teeth [Figure 1].Her heightwas 1.50 m, and the body mass index (BMI) was 13.3 kg/m. Dual energyX-ray absorptiometry (DXA) scan showed a total fat mass of 6.65 kg. The calculated fat mass index (FMI) was 2.96 kg/m, indicating a fat deficit. Triglycerides level was 1.40 mmol/L, the cholesterol level was 3.08 mmol/L, and the uric acid level was 476 mmol/L. Abdominal ultrasound showed a fatty liver. The level of human growth hormonewas 0.1mg/L, and estradiolwas 64 pg/mL. Anoral glucose tolerance test showed that fasting serum glucose, serumglucose at 1 h aftermeal and serumglucose at 2 h after meal were 4.64 mmol/L, 7.75 mmol/L, and 7.12 mmol/L, respectively. Fasting serum insulin, serum insulin at 1 h after meal and serum insulin at 2 h after meal were 25.7mU/ mL, 253.6 mU/mL, and 257.4 mU/mL, respectively. Fasting serum C-peptide, serum C-peptide at 1 h after meal and serum C-peptide at 2 h after meal were 25.7 nmol/L, 253.6 nmol/L, and 257.4 nmol/L, respectively. These results indicated normal glucose tolerance with increased insulin resistance. A plain magnetic resonance imaging (MRI) scan of the internal auditory canal showed no obvious abnormalities bilaterally. Further otolaryngologic examination demonstrated sensorineural hearing loss. Craniocerebral MRI plain scan did not detect clear abnormalities, and bone density examination revealedosteoporosis.Given the special clinical manifestations of the patient, an underlying genetic

• Publication year

  2020

• Venue

  Chinese Medical Journal

• Publication date

  2020-08-20

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/CM9.0000000000000986PMID 32826474PMCID 7462222
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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