Patient Presentation
A new patient, 16-year-old female came to clinic with bilateral knee pain for 2 weeks. She said her knees hurt more as the day went on and with more physical activity. They felt better when she rested or in the morning. She denied any trauma and said that they “just hurt all over” and could not indicate any point tenderness. She denied any joint stiffness, other joint pain, swelling, redness, rashes, or visual problems. She was obese and had not lost weight. She had gained ~20 pounds per report since her last visit to another physician 9 months previously. The past medical history was remarkable for being diagnosed 14 months ago with polycystic ovary syndrome (PCOS) after an evaluation for hirsutism and oligomenorrhea. The patient was supposed to be taking some medications, but she and her mother said that they really didn’t understand why she was taking the medicines so they just stopped a few months after starting them. They had moved and had not re-established care until presentation for the knee pain. The family history was positive for obesity, diabetes, and heart disease. The mother denied any gynecological problems in the family.
The pertinent physical exam showed an obese female who was slow to move around the room. Vital signs were pulse of 94, respiratory of 20, blood pressure of 136/72, weight of 197 lbs with a BMI of 32.1. Her skin examination showed significant acanthosis nigricans and comedomal acne. Her thyroid had no masses. Heart was regular rate and rhythm without murmur. Abdomen was obese with no hepatomegaly. Her joint examinations were normal without edema, erythema and general normal range of motion that was only limited by her weight. Her knees had no specific point tenderness, joint line tenderness and medial and cruciate ligaments were intact.
The diagnosis of deconditioning and joint pain secondary to weight gain was made. As the patient and family did not understand her underlying diagnosis of PCOS the patient was referred to a pediatric endocrinologist for patient education, evaluation and monitoring. The patient also had a well-child examination appointment made as it had been more than a year since her last one. She was also referred to a physical therapist to help with the joint pain and conditioning. The family also agreed to meet with the clinic social worker to help coordinate appointments, transportation, obtaining medical records and also helping the mother to establish medical care for herself and the other children in the family.
Discussion
Polycystic ovary syndrome (PCOS) affects 6-8% of reproductive-age women making it the most common endocrinopathy in this age group. There is no consensus on the specific diagnostic criteria for PCOS in adolescents as many of the characteristics overlap with normal adolescent physiology. However, patients should have evidence of hyperandrogenism, oligo- or amenorrhea, and potentially polycystic ovaries. PCOS has a genetic component although a specific gene has not been identified. Incidence of PCOS is 20-40% for a woman with a family history.
Hyperandrogenism
Androgen levels change during puberty therefore actual measurement and interpretation can make the diagnosis more difficult. Obesity increases androgens. Puberty is associated with a 25-50% decrease in insulin sensitivity. Therefore evidence of hyperandrogenism can be difficult to document.
Acne and hirsutism are common presentations. Hirsutism is the presence of terminal hairs in androgen dependent areas (i.e.male pattern) and is evidence of hyperandrogenism. Hypertrichosis is increase in vellus hair in non-male patterned areas such as forearms and lower legs and needs to be distinguished from hirsutism. Hypertrichosis is not evidence of hyperandrogenism. Patients may also have an increase in muscle mass or voice deepening.
Oligo- or amenorrhea
Anovulatory cycles are normal in pubertal girls so oligomenorrhea ( 2 years or have amenorrhea past the normal menarche should be considered for evaluation. This is especially true if hyperandrogen symptoms are present or if there is a family history of PCOS.
Polycystic ovaries
Multicystic ovaries are part of normal physiology for adolescent girls so diagnosis may overlap with adult criteria. Transvaginal ultrasound is a better imaging modality than transabdominal ultrasound for visualizing the ovaries. But many adolescents require transabdominal ultrasound because they are virginal or will not tolerate the procedure. Obesity also limits the adequacy of the transabdominal study.
The differential diagnosis of PCOS includes:
- Congenital adrenal hyperplasia, late onset
- Cushing syndrome
- Hyperprolactinemia
- Hypothyroidism
- Pregnancy
- Primary ovarian failure
- Tumors – adrenal or ovary
- Acromegaly
Treatment includes lifestyle modifications to improve obesity, insulin insensitivity and dyslipidemia. Oral contraceptives, usually combination medications, can improve menstrual irregularities, decrease androgens and improve hirsutism. Androgen receptor blockers such as spironolactone, also have similar effects. Insulin sensitizers such as metformin can improve insulin sensitization, menstrual irregularities and decrease androgens. Cosmetic methods of hair removal, and treatment of acne can also be helpful additional treatment for PCOS patients.
Learning Point
Potential health problems in PCOS include:
- **Irregular menses
- Infertility
- Endometrial cancer
- Obesity
- Hyperlipidemia
- Non-alcoholic fatty liver disease
- Sleep apnea
- **Acne
- **Hirsutism
- Insulin insensitivity, hyperglycemia
- Type 2 diabetes
- Acanthosis nigricans
- Dyslipidemia
- Hypertension
- Emotional/psychiatric problems
** Common presentations of PCOS in adolescents
Questions for Further Discussion
1. What evaluation for PCOS should be considered?
2. What specialists help to manage PCOS?
Related Cases
- Symptom/Presentation: Pain
- Specialty: Adolescent Medicine | Endocrinology | Obstetrics / Gynecology
- Age: Teenager
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.
Information prescriptions for patients can be found at MedlinePlus for these topics: Polycystic Ovary Syndrome and Knee Injuries and Disorders.
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
To view videos related to this topic check YouTube Videos.
Irizarry KA, Brito V, Freemark M. Screening for metabolic and reproductive complications in obese children and adolescents. Pediatr Ann. 2014 Sep;43(9):e210-7.
Hecht Baldauff N, Arslanian S. Optimal management of polycystic ovary syndrome in adolescence. Arch Dis Child. 2015 Nov;100(11):1076-83.
Rosenfield RL. The Diagnosis of Polycystic Ovary Syndrome in Adolescents. Pediatrics. 2015 Dec;136(6):1154-65.
Morris S, Grover S, Sabin MA. What does a diagnostic label of ‘polycystic ovary syndrome’ really mean in adolescence? A review of current practice recommendations. Clin Obes. 2016 Feb;6(1):1-18.
Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital
Pediatric Education 