Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.
Case: Ten year and 5 month old girl was referred because of short stature. Her height was 115 cm (−3.8 SDS), weight was 20 kg (−2.8 SDS). She had fixed flexion contractures of the fingers and toes, and bilateral hallux valgus. Cutaneous induration, hyperpigmentation and hypertrichosis was evident on the thighs and external genitalia. Her pubertal stage was 1 according to Tanner staging. Mutation analysis of the SLC29A3 gene revealed a homozygous mutation in exon 6. Her thyroid function tests and morning cortisol levels were normal. She had high anti-tissue-transaminase levels and small intestine biopsy revealed celiac disease. On the 10th month of gluten-free diet, her growth rate was still low despite negative serologic markers of celiac disease. IGF1 level was 7.4 ng/ml and the peak GH level was 3.4 ng/ml. Although fasting serum glucose level was normal initially, it increased to 116 mg/dl in the follow-up period. Oral glucose tolerance test revealed impaired glucose tolerance and anti-GAD level was found very high (>200 U/ml). At the age of 12 years and 2 month old she still had no breast development and her peak LH level was detected as 3.19 mIU/ml in GnRH stimulation test. Impaired glucose tolerance, GH deficiency and possible hypogonadotropic hypogonadism are the main endocrinopathies in this case.
Conclusion: Seventy-nine cases with H syndrome were reported so far and some of these are noted to have various endocrinopathies, however etiopathogenesis of endocrinopathies associated H syndrome has not been lightened, yet. To our knowledge, this is the first report emphasising endocrinopathies related H syndrome.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology