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FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder by Atsushi Hattori; Yuko Katoh-Fukui; Ruogu Zhang; Miho Terao; Shuji Takada; Kazuhiko Nakabayashi; Kenichiro Hata; Yutaka Yamada; Nobuo Matsuura; Maki Fukami is a Medicine article available to read on EtoBox.

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## Abstract **Disclosure: A. Hattori:** None. **Y. Katoh-Fukui:** None. **R. Zhang:** None. **M. Terao:** None. **S. Takada:** None. **K. Nakabayashi:** None. **K. Hata:** None. **Y. Yamada:** None. **N. Matsuura:** None. **M. Fukami:** None. **Background:** Pituitary gigantism is characterized by tall stature due to GH overproduction. To date, known genetic causes of pituitary gigantism are invariably associated with predispositions to tumors producing GH or GHRH. **Clinical and genetic findings of the patient:** The patient was a Japanese woman who was born mildly large for gestational age. Her overgrowth started in her first year of life. Despite radiation and pharmacotherapy starting at age three years, she reached an adult height of 197 cm (+7.4 SD). She developed panhypopituitarism associated with empty sella in adulthood and was deceased during sleep at age 53 years. Exome sequencing identified no pathogenic variant causing acromegaly or gigantism. Chromosomal microarray analysis detected a 752-kb deletion upstream of __GHRH__. This deletion was predicted to create a chimeric gene consisting of the 5 ́-UTR of __TTI1__, a ubiquitously expressed gene, and the coding region of

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Author

Atsushi Hattori; Yuko Katoh-Fukui; Ruogu Zhang; Miho Terao; Shuji Takada; Kazuhiko Nakabayashi; Kenichiro Hata; Yutaka Yamada; Nobuo Matsuura; Maki Fukami

Publisher

The Endocrine Society

Published

2023

Field

Medicine (Health Sciences)