RESUMEN
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes. This broad clinical overlap led some authors to propose the concept of KAT6B spectrum disorders. On the other hand, some clinical features could help to differentiate the 2 disorders. Furthermore, it is possible to establish a genotype-phenotype correlation when considering the position of the sequence variant along the gene, supporting the notion of the 2 disorders as really distinct entities.
Asunto(s)
Blefarofimosis/diagnóstico , Blefarofimosis/etiología , Hipotiroidismo Congénito/diagnóstico , Hipotiroidismo Congénito/etiología , Susceptibilidad a Enfermedades , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/etiología , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/etiología , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/etiología , Alelos , Biomarcadores , Diagnóstico Diferencial , Facies , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética , Humanos , FenotipoRESUMEN
PURPOSE OF REVIEW: Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder in women of reproductive age worldwide. This disease causes menstrual, metabolic, and biochemical abnormalities such as hyperandrogenism, oligo-anovulatory menstrual cycles, polycystic ovary, hyperleptinemia, insulin resistance (IR), and cardiometabolic disorders, often associated with overweight or obesity and visceral adiposity. RECENT FINDINGS: The etiology and pathophysiology of PCOS are not yet fully understood, but insulin seems to play a key role in this disease. PCOS shares an inflammatory state with other chronic diseases such as obesity, type II diabetes, and cardiovascular diseases; however, recent studies have shown that a healthy nutritional approach can improve IR and metabolic and reproductive functions, representing a valid therapeutic strategy to ameliorate PCOS symptomatology. This review aimed to summarize and collect evidence about different nutritional approaches such as the Mediterranean diet (MedDiet) and the ketogenic diet (KD), as well as bariatric surgery and nutraceutical supplementation as probiotics, prebiotics, and synbiotics, among the others, used in patients with PCOS.