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https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#1
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28791605/laser-and-light-treatments-for-hair-reduction-in-fitzpatrick-skin-types-iv-vi-a-comprehensive-review-of-the-literature
#2
REVIEW
Rachel A Fayne, Marina Perper, Ariel E Eber, Adam S Aldahan, Keyvan Nouri
Unwanted facial and body hair presents as a common finding in many patients, such as females with hirsutism. With advances in laser and light technology, a clinically significant reduction in hair can be achieved in patients with light skin. However, in patients with darker skin, Fitzpatrick skin types (FST) IV-VI, the higher melanin content of the skin interferes with the proposed mechanism of laser-induced selective photothermolysis, which is to target the melanin in the hair follicle to cause permanent destruction of hair bulge stem cells...
August 8, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28761266/reply-to-hyperprolactinemia-and-hirsutism-in-patients-without-polycystic-ovary-syndrome
#3
COMMENT
David Saceda-Corralo, Pilar Barrio-Dorado, Óscar Moreno-Arrones, Sergio Vañó-Galván
No abstract text is available yet for this article.
January 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28761258/modified-ferriman-gallwey-score-in-hirsutism-and-its-association-with-metabolic-syndrome
#4
R Aswini, Sabeena Jayapalan
BACKGROUND: Hirsutism is the presence of terminal hair in females in males pattern. It occurs in 5%-15% of women. Modified Ferriman-Gallwey (mFG) score of ≥ 8 is considered hirsutism, but there are populations with a low mFG score. In clinical practice, hirsutism is subjective. Although hirsutism is considered as a purely esthetic problem, it is associated with many underlying disorders, especially androgen excess disorders. Polycystic ovarian syndrome (PCOS) disease is the most common cause of androgen excess in females, and there are reports of its association with metabolic syndrome...
January 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28742263/progesterone-receptor-modulators-for-endometriosis
#5
REVIEW
Jing Fu, Hao Song, Min Zhou, Huili Zhu, Yuhe Wang, Hengxi Chen, Wei Huang
BACKGROUND: Endometriosis is defined as the presence of endometrial tissue (glands and stroma) outside the uterine cavity. This condition is oestrogen-dependent and thus is seen primarily during the reproductive years. Owing to their antiproliferative effects in the endometrium, progesterone receptor modulators (PRMs) have been advocated for treatment of endometriosis. OBJECTIVES: To assess the effectiveness and safety of PRMs primarily in terms of pain relief as compared with other treatments or placebo or no treatment in women of reproductive age with endometriosis...
July 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28722456/-hirsutism-etiopathogenesis-diagnostics-and-treatment
#6
Jiří Ettler
Hirsutism is defined as excessive terminal hair growth in distribution typical for postpubertal men. It affects approximately 5-10 % of women and most frequently manifests in puberty. Significant cosmetic stigmatization is the usual complaint that brings patient to the doctor and it is crucial to always rule out any primary underlying disease causing hirsutism - benign or malignant. In this review etiopathogenesis, diagnostic procedures and treatment options are discussed.
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28715810/population-pharmacokinetics-of-diazoxide-in-children-with-hyperinsulinemic-hypoglycemia
#7
Rika Kizu, Kazuko Nishimura, Reiko Sato, Kenjiro Kosaki, Toshiaki Tanaka, Yusuke Tanigawara, Tomonobu Hasegawa
BACKGROUND: Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS: We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmacokinetic analysis. Patient factors influencing pharmacokinetics were estimated using nonlinear mixed-effects model analysis. Relationships between drug exposure and adverse drug reactions were also investigated...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28712591/normalizing-ovulation-rate-by-preferential-reduction-of-hepato-visceral-fat-in-adolescent-girls-with-polycystic-ovary-syndrome
#8
Lourdes Ibáñez, Luis Del Río, Marta Díaz, Giorgia Sebastiani, Óscar J Pozo, Abel López-Bermejo, Francis de Zegher
PURPOSE: Polycystic ovary syndrome (PCOS) is an increasingly prevalent disorder in adolescent girls, commonly presenting with hirsutism/oligomenorrhea, commonly treated with an oral contraceptive (OC), and commonly followed by oligoanovulatory subfertility. We tested whether an intervention targeting the reduction of hepato-visceral adiposity is followed by a higher ovulation rate than OC treatment. METHODS: This randomized, open-label, single-center, pilot proof-of-concept study (12 months on treatment, then 12 months off) was performed in adolescent girls with hirsutism and oligomenorrhea (PCOS by National Institutes of Health; no sexual activity; N = 36; mean age 16 years, body mass index 23...
July 13, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/28711608/do-anabolic-androgenic-steroids-have-performance-enhancing-effects-in-female-athletes
#9
REVIEW
Grace Huang, Shehzad Basaria
Doping with anabolic-androgenic steroids (AAS) is common among both male and female athletes and is a growing public health problem. Review of historical data of systematic state-sponsored doping programs implemented by the German Democratic Republic in elite female athletes and from clinical trials of testosterone administration in non-athlete women suggests that AAS have ergogenic effects in women. The use of AAS in female athletes has been associated with adverse effects that include acne, hirsutism, deepening of the voice and menstrual disturbances; life-threatening adverse effects such as cardiac arrhythmias and sudden death have also been reported...
July 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28698075/comparison-of-metformin-and-n-acetyl-cysteine-as-an-adjuvant-to-clomiphene-citrate-in-clomiphene-resistant-women-with-polycystic-ovary-syndrome
#10
M Nemati, S Nemati, A-M Taheri, B Heidari
OBJECTIVE: To evaluate the effects of short- and long-term treatment with metformin and NAC, in an adjuvant to clomiphene citrate (CC), on the improvement of hormonal profile (SHBG, total testosterone, FBS, and fasting insulin) and fertility status in CC-resistant women with PCOS. MATERIALS AND METHODS: One hundred and eight CC-resistant PCOS patients participated in the study and received either metformin (1500mg/day) or NAC (1800mg/day) with 100mg/day of CC for 8 and 12 weeks...
July 8, 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28693119/clinical-biochemical-and-genetic-features-with-nonclassical-21-hydroxylase-deficiency-and-final-height
#11
Şenay Savaş-Erdeve, Semra Çetinkaya, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Firdevs Baş, Merih Berberoğlu, Zeynep Sıklar, Özlem Korkmaz, Derya Buluş, Emine Demet Akbaş, Tülay Güran, Ece Böber, Onur Akın, Gülay Can Yılmaz, Zehra Aycan
BACKGROUND: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. METHODS: This multicenter, nationwide web-based study collected data. RESULTS: The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28682787/in-utero-virilization-secondary-to-a-maternal-krukenberg-tumor-case-report-and-review-of-literature
#12
Carmen Bustamante, Alfonso Hoyos-Martínez, Daniela Pirela, Alejandro Díaz
BACKGROUND: Krukenberg tumors are ovarian metastatic adenocarcinomas with a primary origin usually located in the stomach, colon, gallbladder, pancreas, or breast. Occasionally, these tumors produce virilization in the affected individual due to androgen production by luteinization of the tumoral stroma. It is believed that during pregnancy these tumors are more likely to increase androgen production due to the elevated levels of human chorionic gonadotropin (hCG). High maternal androgens can cross the placenta producing virilization of the female fetus...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28681570/the-effect-of-cutaneous-prostaglandin-application-on-nail-growth-nail-brittleness-and-intraocular-pressure
#13
David J Palmer, Andrew Scheman, Angelo P Tanna, Alex Bueno
BACKGROUND: Bimatoprost has known adnexal activity and was observed to increase nail growth at two clinical centers. OBJECTIVES: In this randomized, double-blinded, placebo-controlled pilot study, we examine the effect of bimatoprost (Lumigan 0.01%), applied bid to the proximal nail fold on nail growth, nail brittleness, and intraocular pressure. METHODS: Bimatoprost drops were placed on the proximal nail folds of 45 subjects on one hand (medication group) and vehicle drops to the other hand (control group)...
July 6, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/28672743/clinical-biochemical-and-genetic-features-with-nonclassical-21-hydroxylase-deficiency-and-final-height
#14
Şenay Savaş-Erdeve, Semra Çetinkaya, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Firdevs Baş, Merih Berberoğlu, Zeynep Sıklar, Özlem Korkmaz, Derya Buluş, Emine Demet Akbaş, Tülay Güran, Ece Böber, Onur Akın, Gülay Can Yılmaz, Zehra Aycan
BACKGROUND: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. METHODS: This multicenter, nationwide web-based study collected data. RESULTS: The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28672734/subclinical-hypothyroidism-does-not-influence-the-metabolic-and-hormonal-profile-of-women-with-pcos
#15
Eftihios Trakakis, Vasilios Pergialiotis, Erifili Hatziagelaki, Periklis Panagopoulos, Ioannis Salloum, Nikolaos Papantoniou
Background Subclinical hypothyroidism (SCH) is present in 5%-10% of polycystic ovary syndrome (PCOS) patients. To date, its impact on the metabolic and hormonal profile of those women remains controversial. The purpose of our study is to evaluate the impact of SCH on the glycemic, lipid and hormonal profile of PCOS patients. Materials and methods We conducted a prospective case control study of patients that attended the Department of Gynecological Endocrinology of our hospital. Results Overall, 280 women with PCOS were enrolled during a time period of 7 years (2009-2015)...
June 23, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28668998/magnesium-zinc-calcium-vitamin-d-co-supplementation-improves-hormonal-profiles-biomarkers-of-inflammation-and-oxidative-stress-in-women-with-polycystic-ovary-syndrome-a-randomized-double-blind-placebo-controlled-trial
#16
Maryam Maktabi, Mehri Jamilian, Zatollah Asemi
Data on the effects of magnesium-zinc-calcium-vitamin D co-supplementation on hormonal profiles, biomarkers of inflammation, and oxidative stress among women with polycystic ovary syndrome (PCOS) are scarce. The objective of this study was to assess the effects of magnesium-zinc-calcium-vitamin D co-supplementation on hormonal profiles, biomarkers of inflammation, and oxidative stress in women with PCOS. Sixty PCOS women were randomized into two groups and treated with 100 mg magnesium, 4 mg zinc, 400 mg calcium plus 200 IU vitamin D supplements (n = 30), or placebo (n = 30) twice a day for 12 weeks...
July 1, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28624500/phoenixin-14-concentrations-are-increased-in-association-with-luteinizing-hormone-and-nesfatin-1-concentrations-in-women-with-polycystic-ovary-syndrome
#17
Kamran Ullah, Tanzil Ur Rahman, Dan-Dan Wu, Xian-Hua Lin, Ye Liu, Xiao-Yan Guo, Peter C K Leung, Run-Ju Zhang, He-Feng Huang, Jian-Zhong Sheng
BACKGROUND: Polycystic ovary syndrome (PCOS) is commonly characterized by obesity, insulin resistance (IR), hyperandrogenemia and hirsutism. Following the reported relationship between phoenixin-14 and gonadotropin production in rat hypothalamic-pituitary-gonadal axis, the present study was designed to investigate the circulating concentrations of phoenixin-14 and their associations with the concentrations of sex hormones including luteinizing hormone (LH), follicular stimulating hormone (FSH), estradiol (E2), progesterone (P4) and total testosterone (TT) in PCOS patients...
August 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#18
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28616051/omega-3-supplementation-effects-on-polycystic-ovary-syndrome-symptoms-and-metabolic-syndrome
#19
Behnaz Khani, Farahnaz Mardanian, Sajadeh Jafari Fesharaki
BACKGROUND: Polycystic ovary syndrome (PCOS) is the most common female endocrine disorder with unknown etiology and with different complications. The aim of this study was to evaluate the effect of omega-3 supplementation on PCOS symptoms and metabolic syndrome. MATERIALS AND METHODS: This double-blind clinical trial was performed in 2015 in Alzahra and Shahid Beheshti Hospitals, Isfahan, Iran, on 88 patients with PCOS. Intervention group took omega-3 supplements with dose of 2 g/day for 6 months (two capsules), but control group received two olive oil capsules...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28607955/wound-healing-protects-against-chemotherapy-induced-alopecia-in-young-rats-via-up-regulating-interleukin-1%C3%AE-mediated-signaling
#20
Olivera Stojadinovic, Tongyu C Wikramanayake, Alexandra C Villasante Fricke, Natalie C Yin, Liang Liang, Eleanor Hinde, Julia Escandon, Marjana Tomic-Canic, David M Ansell, Ralf Paus, Joaquin J Jimenez
Wound healing is a complex process regulated by various cell types and a plethora of mediators. While interactions between wounded skin and the hair follicles (HFs) could induce HF neogenesis or promote wound healing, it remains unknown whether the wound healing-associated signaling milieu can be manipulated to protect against alopecia, such as chemotherapy-induced alopecia (CIA). Utilizing a well-established neonatal rat model of CIA, we show here that skin wounding protects from alopecia caused by several clinically relevant chemotherapeutic regimens, and that protection is dependent on the time of wounding and hair cycle stage...
May 2017: Heliyon
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