Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 29, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ymgmr.2021.100819
Keywords
Failure to thrive; Whole exome sequence; Midline facial defect
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An 8-month-old girl presented with features of congenital hypopituitarism and was found to have a compound heterozygous mutation of the POU1F1 gene through whole exome sequencing. This mutation, c.662T>C, is reported for the first time in the literature. The study illustrates the utility of WES in early diagnosis of congenital hypopituitarism, improving prognosis, and preventing irreversible deficits.
Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and central congenital hypothyroidism (CCH), was brought to our genetic clinic. Hormone test demonstrated combined pituitary hormone deficiency with growth hormone deficiency (GHD), central hypothyroidism, and hypoprolactinemia. Brain magnetic resonance imaging (MRI) showed anterior pituitary hypoplasia (APH), abnormal pituitary stalk, and preserved posterior pituitary lobe. Whole exome sequence (WES) identified a compound heterozygous mutation of the POU1F1 gene: c.649C>T (p.Arg217Ter) and c.662T>C (p. Ile221Thr), which are de novo mutation and inherited from mother, respectively. The patient's phenotype was consistent clinically with congenital hypopituitarism due to the POU1F1 gene mutation. Based on our literature review, this is the first report of the c.662T>C mutation, to the best of our knowledge. Our study demonstrates the power of WES for early diagnosis of congenital hypopituitarism with its relative phenotype for improving prognosis and preventing irreversible deficit.
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