Repro - Pathology (Sex disorders) Flashcards
Pg. 574-575 in First Aid 2014 Sections include: -Sex chromosome disorders of sexual development -Diagnosing disorders of sex hormones -Other disorders of sex development -Aromatase deficiency -Androgen insensitivity syndrome (46, XY) -5alpha-reductase deficiency -Kallmann syndrome
What gender are patients with Klinefelter syndrome? What is the makeup of their sex chromosomes?
Klinefelter syndrome [male] (XXY)
What is the incidence of Klinefelter syndrome?
1:850
What are 7 signs/symptoms that may characterize the presentation of Klinefelter syndrome?
(1) Testicular atrophy, (2) Eunuchoid body shape, (3) tall, (4) long extremities, (5) gynecomastia, (6) female hair distribution. May present with (7) developmental delay
What chromosomal finding is present in Klinefelter syndrome?
Presence of inactivated X chromosome (Barr body).
In what kind of clinical work-up is Klinefelter syndrome commonly seen, and why?
Common cause of hypogonadism seen in infertility work-up
What are 2 physiological abnormalities of Klinefelter syndrome, and what effects do they have?
(1) Dysgenesis of semniferous tubules => decrease inhibin => increase FSH (2) Abnormal Leydig cell function => decrease testosterone => increase LH => increase estrogen
What gender are patients with Turner syndrome? What is the makeup of their sex chromosomes?
Turner syndrome [female] (XO); Think: “‘Hugs and kisses’ (XO) from tina Turner”
What are 7 signs/symptoms associated with Turner syndrome?
(1) Short stature (if untreated), (2) Ovarian dysgenesis (streak ovary), (3) Shield chest, (4) Bicuspid aortic valve, (5) Preductal coarctation (femoral < brachial pulse, notched ribs), (6) Lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feets, hands), (7) Horseshoe kidney
What physical abnormality may occur if Turner syndrome are left untreated?
Short stature (if untreated)
What abnormality may femoral < brachial pulse and notched ribs indicated in a Turner syndrome patient?
Preductal coarctation (femoral < brachial pulse, notched ribs)
What are 3 results of lymphatic defects in Turner syndrome patients?
Lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feets, hands)
What is the most common cause of primary amenorrhea?
Turner syndrome [female] (XO)
Do Turner syndrome (XO) patients have a Barr body?
NO Barr body.
What unusual sequence of reproductive events seem to occur in Turner syndrome patients?
Menopause before menarche
What are the hormone levels/changes in Turner syndrome patients?
Decreased estrogen leads to high LH, FSH.
What type(s) of error lead to Turner syndrome?
Can result from mitotic or meiotic error
What are 2 forms of Turner syndrome, and what is the chromosomal makeup of each?
Can be complete monosomy (45, XO) or mosaicism (e.g., 45, XO/46, XX)
Is pregnancy possible in Turner syndrome patients? Why/How or why/how not?
Pregnancy is possible in some cases (oocyte donation, exogenous estradiol-17Beta and progesterone)
What is the incidence of double Y males [male] (XYY)?
1:1000
What are 4 physical/behavioral characteristics that describe double Y males?
(1) Phenotypically normal (2) Very tall (3) Severe acne (4) Antisocial behavior (seen in 1-2% of XYY males)
What is a behavioral characteristic associated with double Y males? In what percentage of XYY males is it seen?
Antisocial behavior (seen in 1-2% of XYY males)
Describe the fertility of XYY males.
Normal fertility
With what kind of disorders are a small percentage of XYY males diagnosed?
Small percentage diagnosed with autism spectrum disorders
What are 2 possible options of the chromosomal makeup of patients with true hermaphroditism?
True hermaphroditism (46, XX or 47, XXY)
What is another name for True hermaphroditism?
Also called ovotesticular disorder of sex development
Describe the reproductive tissue and genitalia in True hermaphroditism.
Both ovary and testicular tissue present (ovotestis); ambiguous genitalia.
In general, how common is true hermaphroditism?
Very rare
What is the most likely diagnosis of a disorder with high testosterone and high LH?
Defective androgen receptor
What are 2 likely diagnoses of a disorder with high testosterone and low LH?
Testosterone-secreting tumor, exogenous steroids
What is the most likely diagnosis of a disorder with low testosterone and high LH?
Primary hypogonadism
What is the most likely diagnosis of a disorder with low testosterone and low LH?
Hypogonadotropic hypogonadism
Give 3 examples of terms that describe other disorders of sex development (besides those corresponding with actual sex chromosomal changes). What defines such disorders?
Include terms pseudohermaphrodite, hermaphrodite, and intersex; Disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
What defines female pseudohermaphrodite? What is its sex chromosome makeup?
Ovaries present, but external genitalia are virilized or ambiguous; Female pseudohermaphroditism (XX)
What causes female pseudohermaphrodite? Give 2 examples of this.
Due to excessive and inappropriate exposure to androgenic steroids during early gestation (e.g., congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy).
What defines male pseudohermaphrodite? What is its sex chromosome makeup?
Testes present, but external genitalia are female or ambiguous; Male pseudohermaphroditism (XY)
What is the most common form of Male pseudohermaphroditism?
Androgen insensitivity syndrome (testicular feminization)
What inability defines aromatase deficiency?
Inability to synthesize estrogens from androgens
What physical and hormonal findings characterize aromatase deficiency?
Masculinization of female (46, XX) infants (ambiguous genitalia), and increased serum testosterone and androstenedione
How can aromatase deficiency present during pregnancy, and why?
Can present with maternal virilization during pregnancy (fetal androgens cross the placenta).
What defect and appearance defines androgen insensitivity syndrome? What is the sex chromosome makeup in these patients?
Defect in androgen receptor resulting in normal-appearing female; Androgen insensitivity syndrome (46, XY)
Describe the physical findings of androgen insensitivity syndrome (46, XY).
Female external genitalia with rudimentary vagina; uterus and fallopian tubes generally absent; presents with scant sexual hair; develops testes (often found in labia majora; surgically removed to prevent malignancy)
Where are the testes in patients with androgen insensitivity syndrome (46, XY) often found? What is clinically done to them, and why?
Develops testes (often found in labia majora; surgically removed to prevent malignancy)
What are the hormone levels/changes in androgen insensitivity syndrome (46, XY)?
Increased testosterone, estrogen, LH (vs. sex chromosome disorders)
What is the mode of inheritance of 5-alpha reductase deficiency? What patient population is affected?
Autosomal recessive; sex limited to genetic males (46, XY)
What is the inability that defines 5-alpha reductase deficiency?
Inability to convert testosterone to DHT
What physical findings characterize 5-alpha reductase deficiency? How do they change over time, when, and why?
Ambiguous genitalia until puberty, when increased testosterone causes masculinization/increased growth of external genitalia; Internal genitalia are normal
What are the hormone levels/changes in 5-alpha reductase deficiency?
Testosterone/estrogen levels are normal; LH is normal or increased.
What characterizes puberty in Kallmann syndrome patients?
Failure to complete puberty
Of what condition is Kallmann syndrome a form?
A form of hypogonadotropic hypogonadism
What defect defines Kallmann syndrome?
Defective migration of GnRH cells and formation of olfactory bulb
Again, what is the defect in Kallmann syndrome? What hormonal effects are associated with Kallmann syndrome, and what major symptoms does this cause?
Defective migration of GnRH cells and formation of olfactory bulb; Decreased synthesis of GnRH in hypothalamus; Anosmia; Decreased GnRH, FSH, LH, testosterone, and infertility (low sperm count in males; amenorrhea in females)
