Key Clinical MessageThis case highlights an important lesson for laboratory genetic testing. Geneticists and Genetic Counselors should be aware that although rare, mosaic variegated aneuploidy should be considered if mosaic aneuploidies are observed on karyotype, particularly in the context of short stature.

Background and Aims: Isolated premature menarche is isolated or recurrent vaginal bleeding in a female in the absence of appropriate secondary sexual characters. Methods: Retrospective chart review of patients with premature menarche, followed by a telephone questionnaire. Charts of patients evaluated in the Pediatric Endocrine Clinic for premature vaginal bleeding from 1982-2013 were reviewed. Results: Of 21 patients identified, 17 could be contacted. Five newly diagnosed patients were recruited during the course of the study. The median age at initial presentation was 7 years. Most patients presented with Tanner I sexual development. Some had more advanced breast staging, which regressed later. All had prepubertal baseline and stimulated gonadotropins. Most of the patients reported a single or few episodes of menses. Two reported continuation of irregular bleeding into adulthood. All reported an adult height within the midparental target height. Conclusion: Premature menarche in the absence of other appropriate secondary sexual characteristics is a benign entity. Most patients have a few isolated episodes of menses that stop spontaneously; some may continue to have periods into adulthood. Unlike true puberty, these patients do not demonstrate advanced skeletal maturation, and the adult height is normal. Fertility appears to be normal.

A 15-year-old girl is hospitalized with right upper quadrant abdominal pain, vomiting, and weakness of 3 days' duration. She has a history of hyperlipidemia, polycystic ovary syndrome (PCOS), metabolic syndrome, and left ovarian cystadenectomy. She has been taking oral contraceptives (OCPs) and metformin for the past 2 years and started spironolactone 8 weeks ago. She experienced menarche at age 12 years and had one menstrual cycle for the whole first year. There is no history of dysmenorrhea or menorrhagia. Her family history is positive for type 2 diabetes mellitus (DM), obesity, and gallstones.On physical examination, her body mass index (BMI) is 28.0 kg/m 2 (95th percentile), and she is in mild distress due to pain. Her blood pressure is 128/76 mm Hg (90th percentile for age and height); the remainder of her vital signs are normal. She has acanthosis nigricans and hirsutism. She is at Sexual Maturity Rating 5. She has mild tenderness in the right upper abdominal quadrant, but there is no organomegaly or rigidity. The rest of the physical findings are normal.Laboratory results reveal serum amylase of 660 units/L, lipase of 263 units/L, AST of 868 units/L, ALT of 1,573 units/L, cholesterol of 216 mg/dL (5.6 mmol/L), triglycerides of 181 mg/dL (2.0 mmol/L), high-density lipoprotein (HDL) cholesterol of 33 mg/dL (0.9 mmol/L), and glucose ranging from 120 to 148 mg/dL (6.7 to 8.2 mmol/L). Frequently Used Abbreviations ALT: alanine aminotransferase AST: aspartate aminotransferase BUN: blood urea nitrogen CBC: complete blood count CNS: central nervous system CSF: cerebrospinal fluid CT: computed tomography ECG: electrocardiography ED: emergency department EEG: electroencephalography ESR: erythrocyte sedimentation rate GI: gastrointestinal GU: genitourinary Hct: hematocrit Hgb: hemoglobin MRI: magnetic resonance imaging WBC: white blood cell index of suspicion

Introduction Caring for chronic pediatric endocrine disorders commonly require long-term use of pharmacotherapy. Although these medications are effective in combating disease, their real benefits are often not achieved because of non-adherence. Health care professionals must be aware to the high prevalence of noncompliance which contributes to increased morbidity and medical complications, poorer quality of life and an overuse of the health care system and increase health care costs. Methods In order to better understand the factors contributing to noncompliance in our patient population, we performed a cross -sectional study along with medical chart review. We randomly selected 30 endocrine charts with chronic disorders and reviewed documentation of the need for medications, type of the visit, dose, duration, plan, patient compliance and refill follow up. Special attention was made if the physicians documented discussing the possible side-effects of the medication. An anonymous survey was handed to the parents at the end of visit and form was dropped in a locked box. No personal information or identification was collected. Parents were inquired about their understanding of the need for medication, side effects, compliance and the reason for poor compliance if they met the criteria. The chart reviewed showed that 47% of the patients reported poor compliance to physician during visit but when asked during the survey only 22 % reported poor compliance. 58% of the patients reported not knowing the possible side-effects of the medications. Reasons for non-compliance given by patients were 58% concerned about side effects of medication, refill not provided 4.8%, forgetting to take medication 2.4%, cost 2.4%, and language barrier 2.4%. Other 30% didn’t provide a specific reason for poor compliance. Conclusion Rates of medication adherence in pediatric patient with chronic medical illness range from 11% to 93%, with an estimated average of around 50%. Our population compliance correlates with the national average for pediatric population compliance. Our study also highlighted the importance of discussing possible side-effects with patients. Reviewing it periodically during clinic visits may decrease the risk of non-compliance. 58% of our patients reported lack of knowledge of proper side-effects of the treatment and impact of non -compliance to disease progression. Based on these results, we provided additional resources to physicians to better screen for factors that may affect compliance in each visit. Certain hard stops were added in medical documents and modifications were done in EMR. Information about common endocrine conditions and medication was added in EMR in English and Spanish. Physicians were encouraged to given written information about the proper use and side-effects. We are planning to do a follow up survey in 3–4 months to evaluate the improvement.

Ejaz, Rosenberg, and Kadakia have disclosed no financial relationships relevant to these cases. This commentary does not contain a discussion of an unapproved/ investigative use of a commercial product/device.