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7 Cards in this Set
- Front
- Back
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Sequence of puberty
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Thelarche-Adrenarche-Growth spurt-Menarche
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Genetic defect in turners
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The genetic defect of Turner’s syndrome is the absence of one of the X chromosomes
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What is Kallman Syndrome?
Tx? |
Kallmann syndrome is characterized by olfactory tract hypoplasia and the arcuate nucleus does not secrete GnRH. Therefore these females have no sense of smell and do not develop secondary sexual characteristics. The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia with delayed puberty should suggest Kallmann syndrome. Treatment is pulsatile GnRH therapy.
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Tx for precocious puberty
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treatment would include GnRH agonist to suppress pituitary production of follicular-stimulating hormone and luteinizing hormone
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NOrmal range for menarche
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Normal age for menarche is between 9 and 17
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Tx for Congenital adrenal hyperplasia
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Congenital adrenal hyperplasia of the 21-hydroxylase type results in the adrenal being unable to produce adequate cortisol as a result of a partial block in the conversion of 17-hydroxyprogesterone to desoxycorticosterone, with the accumulation of adrenal androgens. This leads to precocious adrenarche. Treatment includes steroid replacement.
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Next step in someone with mullerian agenesis
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Renal U/S: Renal anomalies occur in 25-35% of females with Mullerian agenesis. The uterus and cervix are absent, but the ovaries function normally and, therefore, secondary sexual characteristics are present. You would expect the karyotype in this patient to be 46,XX.
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