Rare copy number variation in posttraumatic stress disorder.

Posttraumatic stress disorder (PTSD) is a heritable (h2 = 24-71%) psychiatric illness. Copy number variation (CNV) is a form of rare genetic variation that has been implicated in the etiology of psychiatric disorders, but no large-scale investigation of CNV in PTSD has been performed. We present an association study of CNV burden and PTSD symptoms in a sample of 114,383 participants (13,036 cases and 101,347 controls) of European ancestry. CNVs were called using two calling algorithms and intersected to a consensus set. Quality control was performed to remove strong outlier samples. CNVs were examined for association with PTSD within each cohort using linear or logistic regression analysis adjusted for population structure and CNV quality metrics, then inverse variance weighted meta-analyzed across cohorts. We examined the genome-wide total span of CNVs, enrichment of CNVs within specified gene-sets, and CNVs overlapping individual genes and implicated neurodevelopmental regions. The total distance covered by deletions crossing over known neurodevelopmental CNV regions was significant (beta = 0.029, SE = 0.005, P = 6.3 × 10-8). The genome-wide neurodevelopmental CNV burden identified explains 0.034% of the variation in PTSD symptoms. The 15q11.2 BP1-BP2 microdeletion region was significantly associated with PTSD (beta = 0.0206, SE = 0.0056, P = 0.0002). No individual significant genes interrupted by CNV were identified. 22 gene pathways related to the function of the nervous system and brain were significant in pathway analysis (FDR q < 0.05), but these associations were not significant once NDD regions were removed. A larger sample size, better detection methods, and annotated resources of CNV are needed to explore this relationship further.

Grading of hirsutism based on the Ferriman-Gallwey scoring system in Kosovar women.

INTRODUCTION: Hirsutism is defined as excess terminal hair that commonly appears in a male pattern in women. AIM: To examine severity and distribution of hirsutism with Ferriman-Gallwey visual scoring system in hirsute women in Kosovo. MATERIAL AND METHODS: This prospective study included 160 women, 135 with hirsutism and 25 as a control group. The Ferriman-Gallwey score is used to evaluate hirsutism. The examiner scored the subjects on a scale of 0-4 for terminal hair growth on eleven different body areas according to the Ferriman-Gallwey scoring system. An Ferriman-Gallwey score of 8 or more was considered diagnostic of hirsutism. A thorough physical examination with specific emphasis on signs of virilization (including frontal baldness, loss of female body contours, increased muscularity, acne, clitoromegaly, and atrophy of breast) was done in all patients. RESULTS: The positive family history of hirsutism was present in 63.7%. In 51.1% of women with hirsutism, the menstrual cycle was regular, 25.2% had oligomenorrhea, 13.3% amenorrhea, 7.4% dysmenorrhea, 1.5% polymenorrhea and 1.5% oligomenorrhea and dysmenorrhea. The age group with the highest scoring comprised women under 20 years and 20-29 years group with an average value of 23.9 and 24.8, respectively. In our study population, 40% of the patients had an Ferriman-Gallwey score of 3 for the upper lip and 47% of patients had an Ferriman-Gallwey score of 3 for the chin. CONCLUSIONS: The Ferriman-Gallwey scoring system has a great significance and value to establish the diagnosis of hirsutism and is an acceptable screening method.

Acne in hirsute women.

INTRODUCTION: Acne and hirsutism are common manifestations of hyperandrogenism. AIM: To investigate whether or not acne is present in women with hirsutism, associated with different clinical, endocrine and ultrasonographic features. MATERIAL AND METHODS: The prospective study included 135 women with hirsutism, aged 14-46 years. We measured the levels of hormones with radioimmunoassay/immunoradiometric assay methods. RESULTS: Acne were present in 63 (47.6%) women with hirsutism. Sixty women had mild forms of acne, including: whiteheads, blackheads, papules and pustules. Only 3 women had moderate to severe acne, including nodules. In a group of women with hirsutism and acne, 6 (9.5%) were obese. In our study we found a high prevalence of androgen excess among hirsute women with acne: total testosterone was increased in 79%, free testosterone in 20.6%, androstenedione in 69.8%, dehydroepiandrosterone sulfate (DHEAS) in 30.1%, 17-OH-progesterone 68.2% and sex hormone-binding globulin (SHBG) was decreased in 33.3% of women. Women with hirsutism and acne have received oral contraceptives for a year, without or in a combination with other medication. Thirty-four (53.9%) women have shown improvement in hirsutism and acne. CONCLUSIONS: In this study we found a high prevalence of acne in hirsute women. The prevalence of acne was higher in polycystic ovarian syndrome. Since these women have associated endocrine changes it is important to correct them with hormonal therapy.

Mixed form of hirsutism in an adolescent female and laser therapy.

INTRODUCTION: Hirsutism is a common disorder of excess growth of terminal hair in an androgen-dependent male distribution in women, including the chin, upper lip, breasts, back, and abdomen. It is very important to identify the etiology of hirsutism and adequate treat is prior to any cosmetic therapy. CASE PRESENTATION: The case was a 17-year-old female with severe hirsutism, oligomenorrhea, and obesity. She was evaluated to identify the etiology and diagnosed as a case of polycystic ovarian syndrome (PCOS), nonclassic congenital adrenal hyperplasia (NC-CAH), and hyperandrogenic insulin-resistant acanthosis nigricans (HAIR-AN) syndrome, which is a rare combination of hirsutism etiology. She was successfully treated according to the underlying pathology, and laser photoepilation was used as the preferred hair removal method. DISCUSSION: Establishing the etiology, using the evidence-based strategies to improve hirsutism, and treating the underlying disorder, are essential for proper management of women with hirsutism.