Endocrine gland 9

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  1. What is the most common cause of primary hypogonadism (hypergonadotrophic hypogonadism)? [AI 10]
    Klinefelter syndrome
  2. What are the important features of Klinefelter's syndrome? [IOM 06]
    • Klinefelter's syndrome is characterized by small, firm testes, testicular atrophy, [IOM 04],  azoospermia, [UP 01] gynecomastia, and elevated levels of plasma gonadotropins in men with 2 or more X chromosomes. 
    • The common karyotype is 47XXY.  [MP 01, MANIPAL 01] 
    • Presence of inactivated X chromosome (Barr body).
    • Most common causes of primary  hypogonadism in males.
    • Presents with testicular atrophy; a eunuchoid body shape; tall, long extremities; gynecomastia; and female hair distribution.
    • Mild mental deficiency present. [AIIMS 91] 
    • Abnormality of thyroid function, diabetes mellitus, and pulmonary disease may be present. 
    • The risk of breast cancer is 20 times than that of normal men.
  3. Which of the following is true regarding Klinefelter syndrome?  [AI 96, 98]
    A) Breast adenoma
    B) Pituitary adenoma
    C) Short stature
    D) Subnormal intelligence
    D) Subnormal intelligence
    (this multiple choice question has been scrambled)
  4. What are the features of Kallmann syndrome?
    • Decreased GnRH leading to secondary hypogonadism (hypogonadotrophic hypogonadism) [AI 10]
    • X-linked : single gene defect
    • Anosmia [PGI 01] (d/t hypoplasia of olfactory bulb) - permanent even after treatment.
    • Gynecomastia
    • Low FSH, LH
    • Low testosterone
    • Treatment is with testosterone or synthetic GnRH
  5. A child with decreased levels of LH, FSH and testosterone presents with delayed puberty. Which of the following is the most likely diagnosis: [AI 12]
    A. Klinefelter's syndrome
    B. Kallman's syndrome
    C. Androgen Insensitive Syndrome
    D. Testicular Infection
    B. Kallman's syndrome

    In Klinefelter and Testicular infection (viral orchitis); there is hypergonadotrophic hypogonadism.
    Androgen insensitivity syndrome is hypogonadism d/t end organ resistance to action of testosterone (so normal or elevated testosterone).
    (this multiple choice question has been scrambled)
  6. Causes of hyperogonadotrophic hypogonadism in males (Primary testicular failure)
    • - Klinefelter's syndrome
    • - Noonan syndrome (Nelson's)
    • - Cryptorchidism
    • - Testicular infections (infectious orchitis)
    • - Testicular trauma/torsion
    • - Cancer chemotherapy and radiation
    • - Anorchia syndrome (testicular agenesis)
    • - Myotonic dystrophy (testicular atrophy)
  7. What are the features of turner's syndrome? [AIIMS 98,00, UP 00,AI 04,11]
    • Gonadal dysgenesis or Turners syndrome is characterized by primary amenorrhea, sexual infantilism, short stature, multiple congenital abnormalities and bilateral streak gonads in phenotypic woman with several defects of the X-chromosome. 50% of cases has 45,XO karyotype. [MANIPAL 02, AI 03] 
    • Hypergonadotrophic hypogonadism. 
    • Lymphedema of the hands and feet, webbing of neck, low posterior  hairline, redundant skin folds on the back of neck, a shieldlike chest with widely placed nipples are other features.
    • Increased carrrying angle, short fourth  metacarpal
    • There is no breast development [UP 99]  unless exogenous estrogen in given. 
    • 10-20% have coarctation of aorta. [AI 95] 
    • Renal malformations (horse shoe kidney), pigmented nevi, hypoplastic nails, glucose intolerane are other features.

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  8. On USG, finding of cystic hygroma is suggestive of:
    A. Turner's syndrome
    B. Down syndrome
    C. Klinefelter syndrome
    D. Marfan's syndrome
    A. Turner's syndrome

    - cystic hygroma of neck is suggestive but not specific for Turner's syndrome
    (this multiple choice question has been scrambled)
  9. Why is there cystic hygroma in Turner's syndrome?
    • Cystic hygroma is is common in Turner's syndrome due to defective draining lymphatics.
    • It is the reason for edema  of  the limbs.[AIIMS 2003]
    • The loose skin in the neck (web neck) is due to shrinkage of cystic hygroma.
  10. What is pure gonadal dysgenesis?
    • Some phenotypically and genetically normal females have gonadal lesions identical to 45.X patients but  without somatic features of Turner syndrome, this condition is termed as pure gonadal dysgenesis or pure ovarian dysgenesis. 
    • This disorder is rarely recognized in children because the external genitals are normal, no other abnormalities are visible, and the growth is normal. 
    • At pubertal age, sexual maturation fails to take place. 
    • Plasma gonadotropin level are elevated. 
    • Delay in epiphyseal fusion results in a eunuchoid habitus. 
    • Pelvic USG reveals bilateral streak ovaries. [AI 03]  
    • Tumor of gonads have been reported in these patients. 
    • Treatment consists of estrogen replacement therapy.
  11. What are the features of  Noonan's syndrome? [AI 97,03]
    • Noonan's syndrome is also called as XY Turner phenotype.
    • It is an autosomal dominant disorder seen in both sexes. 
    • It is characterized by webbed  neck, short stature, congenital heart disease, cubitus valgus and other congenital defects despite normal karyotypes and normal gonads. 
    • Antimongoloid slant -  condition in which the nasal corners of the palpebral fissure are higher than the temporal corners, as opposed to the typical mongoloid slant.
    • The cardiac defect is most often the pulmonary valvular stenosis [AIIMS 95], hypertrophic cardiomyopathy or atrial septal defect, whereas coarctation of aorta is rare; the reverse is true for 'true' Turner syndrome. 
    • Males  frequently have cryptoorchidism and small testes, puberty is delayed 2 years on average. 
    • Girls have normal sexual maturation,   but is delayed 2 years on average and premature ovarian failure has been reported. 
    • Noonan's syndrome has  mental retardation, but Turners syndrome  patients do not have mental retardation.

    [@ NOONans is 12q and autosomal dominant, in noonans NOON sounds like afterNOON , so noon is 12  and at that time it will be sunny so sun is dominant at that time]
  12. What are the causes of male and female pseudohermophroditism ?
    Male - testicular feminization, complete androgen insensitivity syndrome 

    Female - CAH, androgens producing tumors
  13. Which of the following is the most common cause of female pseudohermaphroditism [AIIMS 02]
    A) PCOD
    B) CAH
    C) Ovarian agenesis
    D) Turner syndrome
    B) CAH

    Congenital adrenal hyperplasia
    due to classic 21-hydroxylase deficiency [AI 92]  is the most common cause of ambigious genitalia in the newborn.
    (this multiple choice question has been scrambled)
  14. Y chromosome is always present is which of the following conditions [SGPGI 99]
    A) Klinefelter syndrome
    B) Gonadal dysgenesis
    C) True hermaphroditism
    D) Turner syndrome
    A) Klinefelter syndrome
    (this multiple choice question has been scrambled)
  15. What are the important causes of gynecomastia? [AI 94,98,UP 96]
    • Anorchidism
    • Ectopic hormone production in Ca bronchus. 
    • Leprosy (due to bilateral testicular atrophy)
    • Klinefelter syndrome
    • Drugs - Spironolactone, Stilbestrol, Digitalis, Cimetidine, Isoniazide, Calcium channel blockers, Estrogen
    • Teratoma of testis 
    • After castration 
    • Adrenal or pituitary disease 
    • Hepatic failure
  16. What are the various hormones measured in investigating gynecomastia? [AI 04]
    • Endocrine evaluation of gynecomastia includes measurement of: 
    • - Androstenedione
    • - Estradiol and hCG
    • - Leuteinizing hormone
    • - Testosterone
  17. What is the reaction involved in conversion of androstenedione to testosterone? [UP 01]
    A) Dehydration
    B) Dehydrogenation
    C) Aromatization
    D) Oxidation
    B) Dehydrogenation
    (this multiple choice question has been scrambled)
Card Set:
Endocrine gland 9
2015-08-15 12:42:13
Reproductive system
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