A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.18, sa.3, ss.538-542, 2026 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 18 Sayı: 3
- Basım Tarihi: 2026
- Doi Numarası: 10.4274/jcrpe.galenos.2025.2025-3-25
- Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM), Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Sayfa Sayıları: ss.538-542
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
Özet
Histone Gene Cluster 1 Member E (HIST1H1E) syndrome is a rare autosomal dominant disorder resulting from a heterozygous variation in the H1-4 gene located on chromosome 6p22.2. Mental retardation, recognizable facial features, skeletal abnormalities and overgrowth are the main clinical manifestations of this syndrome. A 17-year-old male presented to the pediatric endocrinology clinic due to short stature. He had a characteristic facial appearance with neurodevelopmental delay. Genetic analysis revealed a heterozygous pathogenic variation in the H1-4 gene located on chromosome 6p22.2 which confirmed his diagnosis of HIST1H1E syndrome. This presentation was distinguished by the cooccurrence of short stature and obesity accompanying central hypothyroidism and growth hormone deficiency due to a hypoplastic pituitary gland, which is in marked contrast to the somatic overgrowth characterizing this syndrome. Furthermore, the presented case is the second patient reported with HIST1H1E syndrome with hyposecretion of multiple pituitary hormones caused by hypoplasia of the pituitary gland.