Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.

BACKGROUND: The objective of the study was to describe a novel Xp13.2 chromosome microduplication in a child with some features of Turner syndrome but with menorrhagia after normal menarche. We used clinical evaluation and high resolution chromosome (microarray) analysis. CASE: A 15-year-old girl with typical (short stature, pulmonic stenosis, widely-spaced nipples) and atypical (Madelung deformity, menorrhagia) manifestations of Turner syndrome had a novel chromosome constitution with extra material (microduplication) at band Xq13.2 that contained the X-inactive-specific-transcript locus. She also had connective tissue laxity, suggestive of vessel fragility as a contributor to her menorrhagia as well as her diagnosis of von Willebrand disease. This first case of selective X-inactive-specific-transcript locus duplication suggests a role for gene repression in Turner syndrome and other disorders that affect ovarian function. CONCLUSION: High-resolution chromosome (microarray) analysis, now a standard of care, will provide new insights into adolescents with abnormal growth and reproductive tract symptoms, especially when accompanied by congenital anomalies.

Glucose metabolism in overweight Hispanic adolescents with and without polycystic ovary syndrome.

OBJECTIVES: About one third of overweight women with polycystic ovary syndrome (PCOS) have either impaired glucose tolerance (IGT) or type 2 diabetes mellitus (DM) by the age of 30. We sought to determine if overweight Hispanic adolescents with PCOS are more likely to be insulin resistant and glucose intolerant than those without PCOS. METHODS: A retrospective chart review of 101 subjects with PCOS and 40 without PCOS was conducted. Homeostasis Model Assessment of Insulin Resistance (HOMA-IR), Quantitative Insulin Sensitivity Check Index (QUICKI), and fasting glucose/insulin ratio (FGIR) values were calculated by using fasting glucose and insulin levels. Insulin resistance (IR) was defined as a fasting insulin level of >15 microU/mL, a 2-hour insulin level of >75 microU/mL, a HOMA-IR value of >3.16, a QUICKI value of <0.357, and/or a FGIR value of <7. RESULTS: Of the 101 overweight subjects with PCOS (BMI: 33.2 +/- 5.9 kg/m(2)), 4 had IGT and 2 had DM versus none of the 40 subjects without PCOS (BMI: 32.4 +/- 5.3 kg/m(2)). IR was more frequent in the overweight PCOS than in the overweight non-PCOS group (QUICKI: 68.4% vs 14.3%, P = .014) and FGIR (47.4% vs 0%, P = .024). Of the 6 subjects with glucose intolerance, only the QUICKI value was abnormal in all. CONCLUSIONS: This retrospective study demonstrated that overweight Hispanic adolescents with PCOS had more IR, IGT and DM than their non-PCOS counterparts. As the QUICKI Index was abnormal in all subjects with IGT and DM, we suggest its use as the first step in deciding which overweight Hispanic adolescents with PCOS should be further tested with an OGTT.

Premenstrual dysphoric disorder in an adolescent female.

BACKGROUND: A severe cyclic constellation of affective symptoms during the luteal phase of the menstrual cycle is termed premenstrual dysphoric disorder (PMDD). CASE: A 17-yr-old female was referred for evaluation of behavior changes with her menses. Parents noted behavior changes, two to three days before the onset and lasting till the end of her menses. Menarche was at 13 years. Periods were regular, with normal flow and duration and no dysmenorrhea. Psychosocial history was unremarkable. There was no history of sexual activity or abuse. Her physical exam was unremarkable. With the working diagnosis of premenstrual dysphoric syndrome she was asked to keep track of her menses on a menstrual calendar and her symptoms with a daily diary. She was treated with Fluoxetine 20 mg/day during the luteal phase of her menstrual cycle with complete resolution of her symptoms. COMMENTS: In PMDD the mood disturbance occurs during the late luteal phase of the menstrual cycle (approximately 1 week before the onset of menstrual bleeding), remits after the onset of menses, and can be established by a prospective daily symptom log for two consecutive cycles. The symptoms are more severe than that of premenstrual syndrome, are associated with significant functional impairment and are cyclical. Symptoms were documented prospectively as starting a few days before her menstrual bleeding and remitting at the end of it. She responded to episodic use of a selective serotonin reuptake inhibitor. This disorder needs to be better recognized, because it can be easily treated.