Clinical and genetic analysis of an infant with combined pituitary hormone deficiency due to POU1F1 gene variants / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic basis for an infant featuring combined pituitary hormone deficiency.@*METHODS@#Clinical data and results of DNA sequencing of the child were analyzed.@*RESULTS@#The 10-month-old male infant presented with recurrent hypoglycemia, extremely poor appetite and constipation, and severe growth retardation from 2 months on, in addition with pituitary hormone deficiency involving growth hormone, thyroid stimulating hormone, and prolactin. Next generation sequencing revealed a novel heterozygous c.767-769del (p.Glu256del) variant of the POU1F1 gene in the patient.@*CONCLUSION@#The patient was diagnosed with combined pituitary hormone deficiency due to the POU1F1 gene variant, for which replacement therapy including thyroxine and growth hormone was provided. Hypoglycemia is unusual in patients carrying POU1F1 gene variants and requires close attention in clinical practice. For children with multiple pituitary hormone deficiency, genetic testing should be recommended to determine the cause.