Needs Assessment and Description
Practicing clinicians and laboratory personnel will be involved in the care of infertile individuals/couples who have genetic diseases. It is extremely important for those caring for patients with polycystic ovary syndrome, hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, müllerian anomalies and endometriosis to know how these disorders can be inherited and if there are known genes that could be tested clinically. This live course will help clinicians and laboratory personnel understand the molecular basis of common reproductive endocrinopathies, which will permit better genetic counseling, treatment and care for these patients.

Learning Objectives
At the conclusion of this session, participants should be able to:

1. Describe the current status of the molecular basis for each of the following disorders:
   a. Polycystic ovary syndrome
   b. Hypogonadotropic hypogonadism, including hypothalamic amenorrhea
   c. Hypergonadotropic hypogonadism, including Turner syndrome and premature ovarian failure 
   d. Müllerian aplasia 
   e. Endometriosis 
   f. Spontaneous ovarian hyperstimulation syndrome
   
   
2. Discuss with patients which reproductive endocrine disorders have clinically meaningful genetic testing available (or on a research basis).

ACGME Competency
Medical Knowledge
Patient Care

TEST QUESTION:|
A 33-year-old woman who is gravida 2, para 2 with previously regular menses now presents with decreasing frequency of her menstrual cycles over the past year. She has been amenorrheic for 4 months and is complaining of hot flashes, night sweats and vaginal dryness. Her family history indicates that she has a cousin who went into early menopause (age 37) and another male cousin with intellectual disability. Her physical exam reveals a height of 5’8” and an atrophic vagina. She does not bleed at all following 7 days of medroxyprogesterone. Her laboratory studies demonstrate a TSH = 2.7μU/mL (0.4-4); total T4 = 8μg/dL (4.5-12.5), prolactin = 6ng/mL (3-25); FSH = 75mIU/mL (1-9); and LH = 49mIU/mL (1-9). After participating in this session, in my practice I will recommend the following genetic test as the most helpful in determining the etiology of her condition:

1. FMR1
2. FSHR
3. FOXL2
4. LHR
5. Not applicable to my area of practice