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Case Report

Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)

Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo

Clin Exp Pediatr. 2010;53(3):432-436. Published online March 15, 2010

Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old...

Original Article

A Case of Transient Neonatal Diabetes Mellitus.

Hye Hyun Kim, Kyung Ha Ryu, Keun Lee

Clin Exp Pediatr. 1988;31(10):1346-1349. Published online October 31, 1988

Transient Neonatal D.M. is rare disease which is characterized by letharginess, dehydration and weight loss with severe hyperglycemia. It occurs frequently which small for data infant and recovers spontaneously if appropriate insulin treatment was taken. We had expirienced a case of Transient Neonatal D.M. in 15 days old female infant. The review of the literature was made briefly.

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