Literature DB >> 33536409

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.

Moritake Higa1, Akiko Zaha1, Akiko Takushi1, Nami Morishima1, Toyofumi Majikina1, Takeshi Touma1, Michio Shimabukuro1,2, Hiroaki Masuzaki3, Misa Honda4, Tomonobu Hasegawa5.   

Abstract

We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.

Entities:  

Year:  2021        PMID： 33536409      PMCID： PMC7859387          DOI： 10.1038/s41439-021-00138-w

Source DB:  PubMed          Journal:  Hum Genome Var        ISSN： 2054-345X


  8 in total

1.  Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.

Authors:  Naomi Hatabu; Naoko Amano; Jun Mori; Yukihiro Hasegawa; Hiroki Matsuura; Naofumi Sumitomo; Kazumichi Nishizawa; Mariko Suzuki; Satomi Katakura; Naokazu Kanamoto; Tsutomu Kamimaki; Tomohiro Ishii; Tomonobu Hasegawa
Journal:  J Clin Endocrinol Metab       Date:  2019-05-01       Impact factor: 5.958

2.  Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Authors:  Bo Yang Baker; Lin Lin; Chan Jong Kim; Jamal Raza; Claire P Smith; Walter L Miller; John C Achermann
Journal:  J Clin Endocrinol Metab       Date:  2006-09-12       Impact factor: 5.958

3.  Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.

Authors:  J Nakae; T Tajima; T Sugawara; F Arakane; K Hanaki; T Hotsubo; N Igarashi; Y Igarashi; T Ishii; N Koda; T Kondo; H Kohno; Y Nakagawa; K Tachibana; Y Takeshima; K Tsubouchi; J F Strauss; K Fujieda
Journal:  Hum Mol Genet       Date:  1997-04       Impact factor: 6.150

4.  The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Authors:  H S Bose; T Sugawara; J F Strauss; W L Miller
Journal:  N Engl J Med       Date:  1996-12-19       Impact factor: 91.245

5.  Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Authors:  Tomohiro Ishii; Toshihiro Tajima; Kenichi Kashimada; Tokuo Mukai; Yusuke Tanahashi; Noriyuki Katsumata; Junko Kanno; Takashi Hamajima; Kenichi Miyako; Shinobu Ida; Tomonobu Hasegawa
Journal:  J Clin Endocrinol Metab       Date:  2020-11-01       Impact factor: 5.958

Review 6.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

7.  Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.

Authors:  Tomohiro Ishii; Naoaki Hori; Naoko Amano; Misaki Aya; Hirotaka Shibata; Noriyuki Katsumata; Tomonobu Hasegawa
Journal:  J Endocr Soc       Date:  2019-05-16

8.  A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Authors:  Junpei Hamada; Fumihiro Ochi; Yuka Sei; Koji Takemoto; Hiroki Hirai; Misa Honda; Hironori Shibata; Tomonobu Hasegawa; Mariko Eguchi
Journal:  Hum Genome Var       Date:  2020-09-28
  8 in total

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