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Marfan's Syndrome i,- i,-i,- i,- Connective tissue disorder affecting i,- i,- i,- i,-
skeletal, cardiac, ophthalmic systems, and pulmonary;
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characterized by tall stature and joint hypermobility.
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Fragile X Syndrome
i,- i,- i,-i,- i,- Characterized by 'FMR1 expansion' on X i,- i,- i,- i,- i,- i,-
chromosome; leads to intellectual disability and delayed speech.
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Cryptorchidism i,-i,- i,- Undescended testicle, of one or both testicles i,- i,- i,- i,- i,- i,- i,-
into scrotum; risk is increased with <28 weeks gestation.
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Management of Klinefelter's Syndrome
i,- i,- i,- i,-i,- i,- Pharmacological i,-
management includes testosterone replacement therapy.
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Signs of Down Syndrome
i,- i,- i,- i,-i,- i,- Phenotypical characteristics include i,- i,- i,-
,moderate to severe mental retardation, distinct physical features.
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Assessment for Klinefelter's Syndrome i,- i,- i,- i,-i,- i,- Tall stature, rounded
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bodies, hypogonadism, and personality impairment.
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Risk factors for Cryptorchidism
i,- i,- i,- i,-i,- i,- Includes Down i,- i,-
syndrome, Klinefelter syndrome, prematurity, and decreased
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birth weight. i,
Late descent of testes
i,- i,- i,- i,-i,- i,- Delayed movement of testes into scrotum.i,- i,- i,- i,- i,
Inflammatory injury within scrotum i,- i,- i,- i,-i,- i,- Injury causing inflammation
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in scrotal tissue.
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Testicular CA i,- i,-i,- i,- Cancer of the testicles, requires monitoring.
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Communicating hydrocele i,- i,-i,- i,- Fluid-filled sac; monitored until i,- i,- i,- i,-
12 years.
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Non-communicating hydrocele Fluid i,- i,-i,- i,- i,-
accumulation; requires surgical drainage. i, i, i,-
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Painless swelling in scrotum Common symptom
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of various scrotal conditions.
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, Management of Turner's Syndrome i,- i,- i,- i,-i,- i,- Prenatal ultrasound to i,- i,- i,-
assess for presence of cardiac or renal abnormalities.
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Management of Marfan's Syndrome Treatment includes beta
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blockers for impulse control and losartan to regulate FBN1-
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beta function.
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Epididymitis i,-i,- i,- Acute inflammatory infection typically
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presenting with unilateral scrotal pain and edema.
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Hydrocele Collection of peritoneal fluid within scrotum,
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resulting in generalized swelling.
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Assessment for Turner's Syndrome i,- i,- i,- i,-i,- i,- Congenital lymphedema, i,- i,-
webbed neck, and short stature.
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Assessment for Marfan's Syndrome i,- i,- i,- i,-i,- i,- Tall stature with arm span
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exceeding height, joint hypermobility, and scoliosis.
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Prenatal screenings for genetic disorders
i,- i,- i,- i,- i,-i,- i,- Tests conducted to
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