Correct Dx Key to Primary Ovarian Insufficiency


SAN ANTONIO — Make the diagnosis, inform the parents first, and consider full hormone replacement therapy when an adolescent girl presents with irregular menses suggestive of primary ovarian insufficiency, Dr. Lawrence M. Nelson advised.

“The No. 1 thing I am going to ask you to do regarding primary ovarian insufficiency is to make a diagnosis,” he said at the annual meeting of the North American Society for Pediatric and Adolescent Gynecology.

Take amenorrhea seriously, Dr. Nelson said. Although the commonly held view is “that anything goes with the menstrual cycle when you are a teenager,” irregularities can signal a serious condition. “When someone comes in with hypothyroidism, they get [thyroid-stimulating hormone] measured. When the menstrual cycle is abnormal, people will just say it's stress,” said Dr. Nelson, head of the integrative reproductive medicine unit at the National Institute of Child Health and Human Development.

Any adolescent girl who has not had menses for 90 days or longer should be evaluated further. Any girl without signs of pubertal development or onset of menses by age 13 also may have primary ovarian insufficiency (POI).

Target your evaluation based on history and physical examination and check hormone levels, including follicle-stimulating hormone, Dr. Nelson said.

A disturbance in the menstrual cycle was the leading initial symptom reported by 48 women surveyed after diagnosis with spontaneous premature ovarian failure (Obstet. Gynecol. 2002;99[pt. 1]:720–5). More than half of the respondents consulted three or more clinicians before a laboratory diagnosis was made. The median delay in diagnosis was 2 years, and for 25% it took longer than 5 years.

Once you make the diagnosis, use a family systems approach to counseling, Dr. Nelson said. “It is important to inform the parents first and then the patient. It is not a good idea, in our experience, to explain it to the parents and child at the same time.” This approach gives parents an opportunity to absorb the news and, in many cases, to grieve their loss of future grandchildren. Also, provide parents with tools that facilitate an ongoing conversation with the child.

Inform both parents and the patient with sensitivity, Dr. Nelson said. Use accurate terminology, provide information, and make appropriate psychosocial referrals. “Placing too much emphasis on the fertility effects early on may do more harm—that is one of my concerns.”

Offer the adolescent advice on how to minimize or avoid stigma and to develop positive self-esteem and body image. Physician counseling can make a difference in self-esteem, anxiety, and depression associated with POI, based on a study by Dr. Nelson and his colleagues (Fertil. Steril. 2009 [doi:10.1016/j.fertnstert.2008.12.122

After diagnosis and counseling, treatment considerations are next. “Unlike postmenopausal women, it's full hormone replacement for these [girls],” he said.

There are multiple treatments and regimens available, and he recommended a review article that outlines how to induce puberty for adolescent patients (Ann. N.Y. Acad. Sci. 2008;1135:204–11). This publication discusses the benefits and risks of hormone replacement therapy—including special concerns about bone health and eating disorders—in this population.

Although common, follicular depletion associated with POI cannot be proven definitively. “It is now clear the ovarian failure is not permanent in all women,” Dr. Nelson said. Rarely, “some women get pregnant with this diagnosis.”

'Placing too much emphasis on the fertility effects early on may do more harm—that is one of my concerns.'


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