A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies.
İlayda Altun, Elvan Bayramoğlu, Hasan Karakaş et al.
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Case in brief
A 17-year-old male was evaluated for short stature and had characteristic facial features and neurodevelopmental delay. Genetic testing identified a heterozygous pathogenic H1-4 variant on chromosome 6p22.2, confirming HIST1H1E syndrome. He also had obesity, central hypothyroidism, and growth hormone deficiency associated with a hypoplastic pituitary gland. These findings contrasted with the somatic overgrowth commonly described in the syndrome.
What made this case unusual
Short stature and obesity, with multiple pituitary hormone deficiencies linked to pituitary hypoplasia, contrasted with the overgrowth typically associated with HIST1H1E syndrome. The report describes this as the second reported patient with the syndrome and pituitary hypoplasia-related hyposecretion of multiple hormones.
Diagnostic / clinical pearl
In a patient with features of HIST1H1E syndrome, short stature should not be assumed to exclude the diagnosis; assessment may reveal pituitary hypoplasia and multiple hormone deficiencies.