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Decreased estrogen, elevated FSH, elevated LH, normal to elevated GnRH
54%
279/517
Elevated estrogen, decreased FSH, elevated LH, decreased GnRH
5%
27/517
Normal estrogen, normal FSH, normal LH, normal GnRH
4%
21/517
Decreased estrogen, decreased FSH, decreased LH, increased GnRH
19%
98/517
Decreased estrogen, decreased FSH, decreased LH, decreased GnRH
15%
75/517
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The patient in this vignette presents with primary amenorrhea, short stature, and a history of congenital renal issues suggestive of Turner syndrome. Patients with Turner syndrome will have decreased estrogen, elevated FSH, elevated LH, and normal to elevated GnRH. Turner syndrome is characterized by monosomy of the X chromosome, resulting in a 45,XO karyotype. This leads to primary amenorrhea, streak gonads, infertility, delayed sexual maturation, and an increased risk for multiple systemic comorbidities. Patients with Turner syndrome will have systemically low levels of estrogen, resulting in a loss of negative feedback on the pituitary hormones FSH and LH with some additional effect on hypothalamic secretion of GnRH. Other hormonal findings may include normal growth hormone, normal insulin-like growth factor, and low anti-Mullerian hormone. Figure A demonstrates the characteristic low hairline seen in patients with Turner syndrome. Incorrect Answers: Answer 2: Polycystic ovarian syndrome (PCOS) is characterized by elevated LH, leading to decreased FSH levels and elevated androgens that can be aromatized to estrogen. GnRH would likely be decreased in PCOS due to negative feedback of estrogen on the hypothalamus. PCOS classically presents with amenorrhea, infertility, hirsutism, and acne in adolescent and young adult females. Answer 3: This patient has multiple characteristics consistent with Turner syndrome. Reproductive hormone levels would not be normal in this patient. Answer 4: Pituitary gland dysfunction due to trauma or infection will lead to a decrease in FSH, LH, androgens, and estrogens. If the hypothalamus is spared, GnRH levels will be elevated due to loss of negative feedback. Answer 5: Kallmann syndrome is a form of congenital hypogonadotropic hypogonadism characterized by failure of GnRH producing neurons to migrate into the hypothalamus. The low levels of GnRH result in low levels of LH, FSH, androgens, and estrogens. In females, Kallmann syndrome presents with primary amenorrhea, anosmia, failure to start or complete puberty, and infertility. Bullet Summary: Turner syndrome (45,XO) is characterized by an inability to produce estrogen, leading to elevated FSH and LH levels due to loss of negative feedback.
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