• FSH: 48 mIU/mL (elevated)
• Estradiol: 8 pg/mL (low)
• TSH: 2.2 mIU/L
• Prolactin: 12 ng/mL

• Amenorrhea
• High FSH
• Low estrogen

• Antimullerian hormone
• Antiovarian antibody
• Karyotype
• Bone density
• MRI pelvis

Karyotype

Primary ovarian insufficiency (POI) is the unexpected cessation of menstruation prior to the anticipated age of menopause. This is traditionally defined as before 40 years of age, and is confirmed by two elevated FSH readings (above 40 mIU/mL).

AMH is not sufficiently discriminative in the diagnosis of POI.

Potential causes of POI include genetic, iatrogenic, autoimmune or infectious. The cause in most cases, however, will remain obscure.

Although karyotypic errors are typically rare in POI patients with prior menses, they still do occur, and the implications of their occurrence do compel karyotyping as the next step in evaluation of POI. For instance, the presence of a Y chromosome, even if only fragments of it, would alarm the possibility of gonadal dysgenesis, which may in turn risk tumors. On a similar note, the lack of an X chromosome, as seen in Turner syndrome, should prompt a screen for serious associated conditions, such as valvulopathy, and aneurysms.

Ovarian antibodies are positive when the cause of ovarian failure is autoimmunity. This etiology is not uncommon, but is often indicated for clinically by other autoimmune conditions, either concomitantly or in the past.Patients with POI are at an increased risk of osteoporosis due to insufficient estrogen.

Although a bone density scan is the ideal screen for osteopenia, it is not urgent when evaluating a POI.

• The European Society of Human Reproduction and Embryology. POI Guideline Development Group. 2015;(December). 
• JS L. Primary Ovarian Insufficiency. Semin Reprod Med [2016]. Available from: https://pubmed.ncbi.nlm.nih.gov/27513024/. 
• RW R. Premature ovarian failure. Obstet Gynecol [2009]. Available from: https://pubmed.ncbi.nlm.nih.gov/19461434/