BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …

Ovarian deficiency, including premature ovarian insufficiency (POI) and diminished ovarian
reserve (DOR), represents one of the main causes of female infertility. POI is a genetically …

Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …

Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several
genes. The majority of cases are still unsolved. Our aim was to identify the molecular …

Purpose To investigate the potential genetic etiology of premature ovarian insufficiency
(POI). Methods Whole-exome sequencing (WES) was done on DNA samples from women …

OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused
gene panels is becoming increasingly common for molecular diagnostics. However …

BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic
galactosemia (CG), an inborn error of galactose metabolism that invariably affects female …

Premature ovarian insufficiency (POI) is a cause of infertility and endocrine dysfunction in
women, defined by loss of normal, predictable ovarian activity before the age of 40 years …