DSD's, Precocious Puberty, and Amenorrhea Flashcards
What cause of amenorrhea presents with absence of 2/3 vagina and uterine abnormalities?
Mullerian agenesis
What cause of amenorrhea presents with breast development but no uterus, pubic hair or menses?
Complete androgen insensitivity
What cause of amenorrhea presents with short stature, low bone age, and normal growth velocity?
Constitutional growth delay (no tx necessary)
What cause of amenorrhea presents with anosmia and isolated gonadotropin deficiency?
Kallman’s syndrome
In precocious puberty, what are the LH levels for peripheral vs central on a GnRH stimulation test?
Peripheral: low LH (gonadal or adrenal release of excess sex hormones, eg: CAH)
Central: high LH (early activation of HPA axis)
What is premature thelarche?
Isolated premature breast development
What is premature adrenarche?
Isolated pubic hair development
What’s the initial evaluation of patients with precocious puberty?
Bone age radiograph
Which DSD presents with seminiferous tubule dysgenesis, azoospermia, hypogonadism, and elevated FSH and LH levels in males?
Klinefelter syndrome (47, XXY)
Which DSD presents with streak ovaries (ovarian dysgenesis), causing no menses and elevated FSH and LH?
Turner syndrome (45, XO)
Which DSD presents with normal breasts, no menses, no pubic or armpit hair, female external genitalia, blind pouch vagina, elevated testosterone, estrogen, and LH, and cryptorchid testes?
Androgen insensitivity syndrome (46, XY)
X-linked mutation in androgen receptor
Which DSD presents with ambiguous genitalia until puberty, then virilization of external genitalia with no breast development at puberty, normal internal genitalia, normal testosterone and estrogen levels, normal/increased LH?
5-a-reductase deficiency (46, XY)
AR inheritance
Which DSD presents with anosmia, no menses, no breast development, no pubic or armpit hair, and normal external and internal sex organs?
Kallmann’s syndrome (normal karyotype)
