Premature ovarian insufficiency: an international menopause society white paper
The aim of this International Menopause Society White Paper on premature ovarian
insufficiency (POI) is to provide the latest information regarding this distressing condition …
insufficiency (POI) is to provide the latest information regarding this distressing condition …
The changing face of Turner syndrome
CH Gravholt, M Viuff, J Just, K Sandahl… - Endocrine …, 2023 - academic.oup.com
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …
Genetics of primary ovarian insufficiency
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …
age of 40 and account for one major cause of female infertility. POI relevance is continuously …
The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders
BACKGROUND A large number of studies have contributed to understanding the general
mechanisms driving ovarian folliculogenesis in humans and show a complex endocrine …
mechanisms driving ovarian folliculogenesis in humans and show a complex endocrine …
Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency
I Huhtaniemi, O Hovatta, A La Marca, G Livera… - Trends in Endocrinology …, 2018 - cell.com
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 …
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …
Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review
S van der Coelen, J van der Velden… - Human …, 2024 - academic.oup.com
BACKGROUND Girls with Turner syndrome (TS) lack a partial or complete sex chromosome,
which causes an accelerated decline of their ovarian reserve. Girls have to deal with several …
which causes an accelerated decline of their ovarian reserve. Girls have to deal with several …
Sex chromosome aneuploidies
D Skuse, F Printzlau, J Wolstencroft - Handbook of clinical neurology, 2018 - Elsevier
Sex chromosome aneuploidies comprise a relatively common group of chromosome
disorders characterized by the loss or gain of one or more sex chromosomes. We discuss …
disorders characterized by the loss or gain of one or more sex chromosomes. We discuss …
Ovarian dysfunction in women with Turner syndrome
M Fukami - Frontiers in Endocrinology, 2023 - frontiersin.org
Ovarian dysfunction is one of the most common features of women with Turner syndrome. In
these women, oocyte apoptosis is markedly accelerated from the early stage of fetal life …
these women, oocyte apoptosis is markedly accelerated from the early stage of fetal life …
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
Context Primary ovarian insufficiency (POI) encompasses a spectrum of premature
menopause, including both primary and secondary amenorrhea. For 75% to 90% of …
menopause, including both primary and secondary amenorrhea. For 75% to 90% of …
High-resolution array-CGH analysis on 46, XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function
I Bestetti, C Castronovo, A Sironi, C Caslini… - Human …, 2019 - academic.oup.com
STUDY QUESTION Can high resolution array-CGH analysis on a cohort of women showing
a primary ovarian insufficiency (POI) phenotype in young age identify copy number variants …
a primary ovarian insufficiency (POI) phenotype in young age identify copy number variants …