Cri-du-chat Syndrome
Epidemiology and Etiology Epidemiology Etiology Clinical Presentation Symptoms vary and depend on the amount of deleted genetic material. Neonatal symptoms Symptoms of late childhood and adolescence Diagnosis and Management Diagnosis Management Prognosis Differential Diagnosis The following conditions are differential diagnoses of cri-du-chat syndrome: References
Swyer Syndrome
Epidemiology and Etiology Synonyms Epidemiology Etiology The karyotype of an individual with Swyer syndrome is 46 XY. Swyer syndrome can be caused by various genetic abnormalities: Pathophysiology and Clinical Presentation Pathophysiology Clinical presentation Diagnosis and Management Diagnosis Management Differential Diagnosis The following conditions are differential diagnoses for Swyer syndrome: References
46,XX Gonadal Dysgenesis
Etiology and Pathophysiology Synonyms Epidemiology Etiology Pathophysiology Various mutations (especially point mutations that lead to FSH-resistant ovaries) lead to interrupted ovarian development during embryogenesis OR premature depletion of ovarian follicles → impaired estrogen secretion → undeveloped secondary sexual characteristics. Clinical Presentation Diagnosis and Management Diagnosis Diagnosis is mainly clinical, based on amenorrhea, undeveloped secondary sexual […]