The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency

Article Urology & Nephrology

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care

Margot J. Wyrwoll et al.

Summary: The number of diagnostic genes in crypto-/azoospermia was almost doubled to 21 using exome-based analyses and clinical guidelines.

EUROPEAN UROLOGY (2023)

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Article Genetics & Heredity

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia

Zine-Eddine Kherraf et al.

Summary: This study aims to improve the genetic diagnosis of non-obstructive azoospermia (NOA) by identifying new genes related to the condition and determining the chances of successful sperm extraction based on an individual's genotype. Exome sequencing revealed 16 potential genes causing defects in NOA. Interestingly, individuals with defects in meiotic genes had low or no chances of successful sperm retrieval.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Review Developmental Biology

A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure

Ludmila Volozonoka et al.

Summary: This study aimed to identify genes associated with female reproductive failure and classify the gene-disease relationships. The results provide comprehensive information on the genetic causes of female infertility, which can contribute to the development of guidelines for genetic testing and reproductive decision-making.

REPRODUCTION (2022)

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Article Endocrinology & Metabolism

Premature menopause and autoimmune primary ovarian insufficiency in two international multi-center cohorts

Elinor Chelsom Vogt et al.

Summary: This study investigated markers of premature menopause and the prevalence of autoimmune primary ovarian insufficiency (POI) in European women. The results showed that premature menopause was associated with nulliparity, obesity, osteoporosis, hormone replacement therapy, and never smokers. It was found that 1.1% of women had idiopathic POI and 4.5% of POI cases were likely of autoimmune origin based on positive steroidogenic autoantibodies.

ENDOCRINE CONNECTIONS (2022)

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Article Endocrinology & Metabolism

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

Raffaella Rossetti et al.

Summary: Primary ovarian insufficiency (POI) is a major cause of female infertility, potentially due to premature loss of ovarian function. The disorder is highly heterogeneous, with various clinical phenotypes and a genetic component. Research suggests POI may be an oligogenic disease, with new candidates for investigation.

FRONTIERS IN ENDOCRINOLOGY (2021)

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Review Biochemistry & Molecular Biology

A kaleidoscopic view of ovarian genes associated with premature ovarian insufficiency and senescence

Qingling Yang et al.

Summary: Ovarian infertility and subfertility are major challenges in developed countries due to the trend of delayed childbirth. Through genetic studies, genes related to premature ovarian insufficiency and ovarian senescence have been identified, especially those crucial for DNA repair, meiosis, and mitochondrial functions.

FASEB JOURNAL (2021)

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Review Medicine, General & Internal

Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health

Csilla Krausz et al.

Summary: Non-Obstructive Azoospermia (NOA) affects about 1% of men in the general population and is characterized by clinical heterogeneity. Genetic testing is useful for diagnostic and prognostic purposes, with potential relevance for general health. Epidemiological observations suggest a common etiology between NOA and some chronic diseases, including cancer.

JOURNAL OF CLINICAL MEDICINE (2021)

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Article Genetics & Heredity

MCM9 is associated with germline predisposition to early-onset cancer-clinical evidence

Yael Goldberg et al.

Summary: Mutated MCM9 may be associated with early-onset cancer and polyposis in a recessive inheritance pattern. Family members carrying MCM9 mutations often have colonic polys and may develop early-onset cancer. Diagnostic testing and early screening for MCM9 could be beneficial in identifying carriers early.

NPJ GENOMIC MEDICINE (2021)

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Article Endocrinology & Metabolism

Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis

Manuela G. M. Rocha-Braz et al.

Summary: In a study on the genetic bases of osteoporosis, 28 cases were analyzed with targeted sequencing, revealing only 3 pathogenic or likely pathogenic variants. 21% of cases showed associations of variants in different genes, suggesting challenges in identifying actionable pathogenic variants in intriguing cases of idiopathic or familial osteoporosis.

JOURNAL OF THE ENDOCRINE SOCIETY (2021)

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Article Obstetrics & Gynecology