Genetic analysis of novel pathogenic gene HROB in a family with primary ovarian insufficiency / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 727-731, 2023.
Article
Dans Anglais
| WPRIM
| ID: wpr-1009943
ABSTRACT
A 13-year and 6-month-old girl attended the Hunan Children's Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T (p.Arg240*) and c.1351C>T (p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Hormone lutéinisante
/
Insuffisance ovarienne primitive
/
Oestradiol
Limites du sujet:
Enfant
/
Femelle
/
Humains
/
Bébé
langue:
Anglais
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2023
Type:
Article
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