Sex-Related Disorders Flashcards
Androgen Insensitivity Syndrome (AIS)
46, XY
46, XY
Androgen Insensitivity Syndrome (AIS)
Androgen Insensitivity Syndrome (AIS) - Symptoms
Phenotypes range from mild under-virilization to full sex reversal
Phenotypes range from mild under-virilization to full sex reversal
Androgen Insensitivity Syndrome (AIS) - Symptoms
46, XX Ectopic presence of the SRY gene
individual results in a phenotypically normal male
46, XY Deletion or absence of SRY
sex reversal and a phenotypically normal female
46, XY mutation in WT1 gene
Denys-Drash & Frasier Syndrome
Denys-Drash & Frasier Syndrome
46, XY mutation in WT1 gene
Denys-Drash & Frasier Syndrome - Symptoms
sex reversal, chronic kidney disease
sex reversal, chronic kidney disease
Denys-Drash & Frasier Syndrome - Symptoms
5-Alpha Reductase Deficiency
46, XY, undervirilized male with increased virilization at the time of puberty
undervirilized male with increased virilization at the time of puberty
5-Alpha Reductase Deficiency
Congenital Adrenal Hyperplasia
Ambiguous genitalia in 46, XX
Ambiguous genitalia in 46, XX
Congenital Adrenal Hyperplasia
Triple X syndrome
47 XXX
47 XXX
Triple X syndrome
tall, seizures, LD, delayed speech
Triple X syndrome - Symptoms
Triple X syndrome - Symptoms
tall, seizures, LD, delayed speech
Jacobs Syndrome
47 XYY
47 XYY
Jacobs Syndrome - Symptoms
Jacobs Syndrome - Symptoms
LD, behavioral issues, tall, developmental delays, autism
LD, behavioral issues, tall, developmental delays, autism
Jacobs Syndrome - Symptoms
Turner syndrome
45, X
45, X
Turner syndrome
Turner syndrome - Symptoms
short, webbed neck, broad chest
short, webbed neck, broad chest
Turner syndrome - Symptoms
Klinefelter syndrome
47, XXY
47, XXY
Klinefelter syndrome
Klinefelter syndrome - Symptoms
tall, hypogonadism, sterility, lang. impairment, gynecomastia
tall, hypogonadism, sterility, lang. impairment, gynecomastia
Klinefelter syndrome - Symptoms
