ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 2 Year: 2024

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-22932 | DOI: 10.4274/jcrpe.galenos.2023.2023-1-15

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus

Gonul Buyukyilmaz1, Busra Erozan Cavdarlı2, Keziban Toksoy Adiguzel1, Mehmet Adiguzel3, Cigdem Seher Kasapkara4, Fatih Gurbuz1, Mehmet Boyraz1, Esra Gurkas5
1Department of Pediatric Endocrinology, Ankara City Hospital, Ankara, Turkey
2Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey
3Department of Radiology, Ankara University School of Medicine, Ankara, Turkey
4Department of Pediatric Metabolism and Nutrition, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara, Turkey
5Department of Pediatric Neurology, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara, Turkey

4H syndrome is a rare progressive hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the 3 classic features of 4H syndrome. Biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K gene cause 4H leukodystrophy. Herein, we present clinical features in two siblings with 4H syndrome. The first patient (16 years) presented hypogonadotropic hypogonadism, euthyroid Hashimoto's thyroiditis and type 1 diabetes mellitus. The second patient (13.5 years) showed normal physical, biochemical and hormonal examination at presentation. It was learned that he was followed up for epilepsy between the ages of 6 months and 6 years, his epilepsy medication was discontinued at the age of 6, and he did not have seizure again. T2-weighted magnetic resonance images showed increased signal intensity secondary to hypomyelination at patients. They were subsequently found to have homozygous mutation in the POLR3A gene. 4H syndrome may present with neurological and non-neurological findings in addition to classic features of 4H syndrome. Progressive neurological deterioration may occur and endocrine dysfunction may be progressive. Although multipl endocrine abnormalities associated with this disorder have been reported to date, a case accompanied by type 1 DM has not been seen in the literature. We do not know exactly whether this is coinsidans or the expansion of the phenotype. So that reporting such cases helps to determine the appropriate genotype–phenotype correlation in patients.

Keywords: 4H leukodystrophy, POLR3A, hypogonadotropic hypogonadism, Type 1 diabetes mellitus

Corresponding Author: Gonul Buyukyilmaz, Türkiye
Manuscript Language: English
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