Abstract Search

hrp0097t1 | Section | ESPE2023

Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.

Urakawa Tatsuki , Sano Shinichiro , Narusawa Hiromune , Kawashima Sayaka , Nakamura Akie , Matsubara Keiko , Dateki Sumito , Fukami Maki , Ogata Tsutomu , Kagami Masayo

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...

0 shares

hrp0098p1-86 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients

Kagami Masayo , Narusawa Hiromune , Ogawa Tomoe , Yagasaki Hideaki , Nagasaki Keisuke , Urakawa Tatsuki , Saito Tomohiro , Soneda Shun , Sano Shinichiro , Mamada Mitsukazu , Terashita Shintaro , Dateki Sumito , Narumi Satoshi , Naiki Yasuhiro , Horikawa Reiko , Ogata Tsutomu

Background: Defects of MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Furthermore, MECP2 was reported as a causative gene for CPP in 2023. To our knowledge, comprehensive studies on (epi)genetic abnormalities, clinical features, and hormonal features in patients with CPP have not been reported.Methods: In 90 CP...

1 shares

ESPE Abstracts

Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.

Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients

BiosciAbstracts