What levels of testosterone and luteinizing hormone would you expect in a patient with an XY genotype who has defective androgen receptors?
Both testosterone and luteinizing hormone would be elevated (congenital androgen insensitivity)
A patient has elevated testosterone levels; what laboratory test can help you distinguish between a defect in the androgen receptor and the use of exogenous testosterone?
An luteinizing hormone level will be elevated with an androgen receptor defect and will be decreased with exogenous testosterone; also, a patient with complete androgen insensitivity will be externally phenotypically female
What conditions can result in an elevated testosterone level and a decreased luteinizing hormone level?
The use of exogenous steroids and a testosterone-secreting tumor
How can levels of testosterone and luteinizing hormone help you distinguish between primary hypogonadism and hypogonadotropic hypogonadism?
Both have low testosterone; however, primary hypogonadism (gonad failure) has an elevated luteinizing hormone, whereas hypogonadotropic hypogonadism has a low luteinizing hormone level
What is the term for a mismatch between the phenotype of internal (gonads) and external genital structures?
Pseudohermaphroditism, a disagreement between the phenotypic (external genitalia) and the gonadal sex
What type of internal and external sex organs are present in cases of male pseudohermaphroditism?
The testes are present, but the external genitalia are female or ambiguous
What type of internal and external sex organs are present in cases of female pseudohermaphroditism?
The ovaries are present, but the external genitalia are virilized or ambiguous
What in utero events can cause female pseudohermaphroditism at birth?
Excessive exposure to androgenic steroids during early gestation; caused by congenital adrenal hyperplasia or exogenous androgens
What is the most common etiology of male pseudohermaphroditism?
Androgen insensitivity syndrome; formerly known as testicular feminization
A normal-appearing female presents to your office with secondary sex characteristics but no sexual hair, and on exam she has a blind pouch vagina and no palpable uterus; what condition should you suspect?
Androgen insensitivity syndrome, a mutation in the androgen receptor leading to no response to androgens
How can one distinguish between androgen insensitivity syndrome and sex chromosome disorders?
In androgen insensitivity syndrome testosterone, estrogen, and luteinizing hormone will all be elevated, while in sex chromosome disorders testosterone and estrogen are low
You diagnose a patient with androgen insensitivity syndrome; what should be done to prevent malignancy?
Surgical removal of the testicles
In someone with androgen insensitivity syndrome, where in the body are the testes often found?
Most commonly in the labia majora; they can also be found in the abdomen or pelvis
What is the genotype and phenotype for someone with androgen insensitivity syndrome?
The genotype is (46,XY), and the phenotype is externally female
What is the phenotype of the external genitalia of someone with reductase deficiency?
It is ambiguous until puberty (Penis )
What are the levels of testosterone, estrogen, and luteinizing hormone in a patient with reductase deficiency?
Testosterone and estrogen are normal; luteinizing hormone is normal to increased (dihydrotestosterone and testosterone provide negative feedback)
Why do individuals with reductase deficiency undergo genital growth at puberty?
Increased levels of testosterone at puberty trigger growth of the external genitalia despite the lack of reductase
What reaction is blocked in patients with reductase deficiency?
The conversion of testosterone to dihydrotestosterone, which is needed for secondary sex characteristics
What is the histologic appearance of a hydatidiform mole? What is the appearance on gross pathology?
Cystic swelling of the chorionic villi and the proliferation of the chorionic epithelium (trophoblast); grossly, it has a honeycombed uterus or cluster of grapes appearance
A hydatidiform mole is the most common precursor of what malignancy?
What is the genotype of a complete hydatidiform mole?
46,XX (or 46,XY)
A woman presents with abnormal uterine bleeding, highly elevated human chorionic gonadotropin, and an abnormally enlarged uterus; what would you expect to see on sonogram?
Hydatidiform mole, which classically has a snowstorm appearance with no fetus on ultrasound
Which type of hydatidiform mole has chromosomes that are triploid or tetraploid: a partial mole or a complete mole?
A partial mole will commonly have a 69, XXY genotype
Which type of hydatidiform mole may contain fetal parts: a partial mole or a complete mole?
A partial mole (remember: PARTial mole contains PARTS)
Is a patient who has extremely elevated human chorionic gonadotropin and large uterus size more likely to have a complete or a partial mole?
A complete mole; partial moles typically have milder elevations in human chorionic gonadotropin and normal uterus size
What is the origin of the genetic material in a complete hydatidiform mole?
A complete mole contains exclusively paternal DNA; two sperm fertilize an empty egg
What is the origin of the genetic material in a partial hydatidiform mole?
This type of mole has DNA from both the mother and the father due to the fertilization of one egg by two sperm; it can be 69,XXX or 69,XXY
What is the treatment for hydatidiform mole?
Dilatation and curettage; human chorionic gonadotropin level is checked frequently and methotrexate is used if choriocarcinoma develops
How does the risk of malignancy differ between complete and partial moles?
Complete moles have a 15% to 20% risk for malignant trophoblastic disease and progress 2% of the time to choriocarcinoma; partial moles have a low risk of malignancy () and rarely progress
What is the most common cause of recurrent miscarriages in the first weeks of pregnancy?
Low progesterone levels associated with no response to ;-human chorionic gonadotropin