Exxcellence pearls: primary amenorrhea Flashcards
Define primary amenorrhea.
When should evaluation be started for younger women?
No menses by age 16.
Evaluation should begin in a 15-year-old with normal secondary sexual characteristics or age 13 without secondary sexual characteristics
What is the average age of menarche?
12.5 years
What historical features should be emphasized for the evaluation of primary amenorrhea?
Previous growth, exercise habits, nutrition, medications, family history, extensive review of systems, sexual history
What physical exam features should be emphasized for primary amenorrhea?
Height, weight, vital signs, Tanner staging, examination of external genitalia
What initial laboratory testing should be ordered for primary amenorrhea?
hCG, FSH, TSH, prolactin
How is hypergonadotropic hypogonadism determined?
What is the differential diagnosis?
Absent breast development with high FSH
Gonadal dysgenesis including Turner syndrome, pure gonadal dysgenesis, Noonan’s syndrome, Swyer’s syndrome. Also caused by injury or infection to the gonads such as chemotherapy, radiation, mumps; resistant ovary syndrome, 17 hydroxylase deficiency, and autoimmune causes
What is the follow-up laboratory test necessary when hypergonadotropic hypogonadism has been determined?
Chromosome analysis
How is hypogonadotropic hypogonadism determined?
What is the differential diagnosis?
Absent breast development and low for normal FSH.
Hyperprolactinemia, thyroid disorders, constitutional delay, Kallman syndrome, anorexia nervosa, infiltrative and ischemic causes, exercise, stress, chronic disease, poor nutrition, pituitary anomalies or CNS lesions.
What follow-up testing is necessary when hypogonadotropic hypogonadism has been determined?
MRI to rule out CNS tumor
If breast development is present, what is the next step in evaluation?
Imaging to determine if the uterus is present or absent.
What is the concerning long-term risk of hypogonadism?
Increased risk of osteoporosis. Estrogen replacement therapy is necessary.
If the uterus is absent, what follow-up testing is indicated?
Testosterone level
If breast development is present and testosterone level is elevated with what is the diagnosis?
What is this patient’s karyotype?
What are expected physical exam findings?
Complete androgen insensitivity.
46 XY.
Scant pubic hair and axillary hair
If breast development is present and testosterone levels are normal what is the diagnosis?
What is the karyotype?
What is the phenotype?
Mullerian agenesis.
46 XX.
Normal axillary and pubic hair.
What is the differential diagnosis if the uterus is present?
Outlet obstruction such as imperforate hymen or transverse vaginal septum.
PCOS, CAH, Cushing syndrome.
