hrp0086rfc15.2 | Late Breaking | ESPE2016

NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function

Shima Hirohito , Yatsuga Shuichi , Nakamura Akie , Sano Shinichiro , Sasaki Takako , Katsumata Noriyuki , Suzuki Erina , Ogata Tsutomu , Fukami Maki

Background: While hemizygous NR0B1 (DAX1) mutations usually lead to adrenal crisis during infancy or early childhood, p.Gln37*, p.Trp39*, and some other mutations result in late-onset or latent adrenal insufficiency. A small percentage of boys with NR0B1 mutations develops precocious puberty in addition to adrenal insufficiency.Objective and hypotheses: To report a boy with an NR0B1 mutation who exhibited central precocious puberty without adren...

hrp0082p2-d1-540 | Puberty and Neuroendocrinology | ESPE2014

A Novel Mutation at a Splice Acceptor Site of WDR11 in a Patient with Combined Pituitary Hormone Deficiency

Izumi Yoko , Suzuki Erina , Yatsuga Shuichi , Sano Shinichiro , Nakabayashi Kazuhiko , Umezawa Akihiro , Hata Kenichiro , Ogata Tsutomu , Fukami Maki , Yoshimura Yasunori

Background: WDR11 has recently been reported as one of the causative genes of hypogonadotropic hypogonadism (HH). To date, five missense mutations in WDR11 have been identified in six patients with normosmic isolated HH (nIHH) or Kallmann syndrome (KS).Methods: We performed mutation screening of WDR11 for 46 cases with various types of HH. RT-PCR was carried out for a patient with a mutation. The protein structure of the mutant...

hrp0084p1-95 | Growth | ESPE2015

Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype

Kagami Masayo , Matsubara Keiko , Sano Shinichiro , Nakamura Akie , Mizuno Seiji , Hamajima Naoki , Yanagisawa Atsuhiro , Hashimoto Miyuki , Yukote Akira , Fukami Maki , Ogata Tsutomu

Background: Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterised by pre- and postnatal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and fifth finger clinodactyly. Hypomethylation of the H19-DMR and maternal uniparental disomy chromosome 7 (UPD(7)mat) were identified in about 30 and 10% of SRS patients respectively. Genetic causes of the remaining 60% of the patients are unknown. Growth failure, small hands, and hypo...