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Clinica Chimica Acta; International... Jun 2022Hirsutism is the excessive growth of terminal hair in a male pattern in a female. In most hirsute women, hirsutism is caused by increased androgens. However, not all... (Review)
Review
BACKGROUND
Hirsutism is the excessive growth of terminal hair in a male pattern in a female. In most hirsute women, hirsutism is caused by increased androgens. However, not all women with hirsutism actually show elevated levels of circulating androgens with standard laboratory tests, in which case we speak of idiopathic hirsutism (IH).
OBJECTIVES
The aim of this paper is to investigate whether there are biochemical markers that can be used to unravel the cause in IH.
METHODS
An electronic search through the PubMed database was conducted to find studies describing potential biomarkers for IH.
RESULTS
The majority of included studies claimed an increased 5α-reductase (5α-RD) activity in women with IH by means of increased DHT metabolite levels. Studies investigating abnormalities of the androgen receptor (AR) and serum levels of indirect markers showed no significant differences.
CONCLUSIONS
Our literature search showed that polymorphisms of the AR as well as indirect markers seem to be nonspecific, but that the dihydrotestosterone-reduced metabolite 5α-androstane-3α,17β-diol glucuronide is markedly enhanced in women with IH, suggesting an increased 5α-RD activity in these women. Further studies need to be performed to determine the clinical usefulness of 3α-diol G as a biomarker for IH.
Topics: Androgens; Androstane-3,17-diol; Dihydrotestosterone; Female; Hirsutism; Humans; Testosterone
PubMed: 35292252
DOI: 10.1016/j.cca.2022.03.011 -
Taiwanese Journal of Obstetrics &... Jan 2022Polycystic ovary syndrome (PCOS), the most common endocrinopathy in women is characterized by polycystic ovaries, chronic anovulation and hyperandrogenism. The treatment... (Review)
Review
Polycystic ovary syndrome (PCOS), the most common endocrinopathy in women is characterized by polycystic ovaries, chronic anovulation and hyperandrogenism. The treatment in PCOS is mainly symptomatic and involves lifestyle interventions and medications such as Metformin, Oral contraceptives and Antiandrogens. However, the management of PCOS is challenging and current interventions are not able to deal with outcomes of this syndrome. This review encompasses latest pharmacotherapeutic and non-pharmacotherapeutic interventions currently in use to tackle various symptomatic contentions in PCOS. Our focus has been mainly on novel therapeutic modalities for treatment/management of PCOS, like use of newer insulin sensitizers viz., Inositols, Glucagon-like peptide-1(GLP-1) agonists, Dipeptidyl pepdidase-4 (DPP-4) inhibitors, and sodium-glucose transport protein 2 (SGLT2) inhibitors. Also, evidence suggesting the use of vitamin D, statins, and Letrozole as emerging therapies in PCOS have been summarized in this review. Additionally, novel cosmetic techniques like electrolysis, laser and use of topically applied eflornithine to tackle the most distressing feature of facial hirsutism associated with PCOS, non-pharmacological therapy like acupuncture and the role of herbal medicine in PCOS management have also been discussed.
Topics: Acupuncture; Anovulation; Eflornithine; Female; Herbal Medicine; Hirsutism; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperandrogenism; Hypoglycemic Agents; Laser Therapy; Letrozole; Metformin; Polycystic Ovary Syndrome; Vitamin D
PubMed: 35181044
DOI: 10.1016/j.tjog.2021.11.009 -
Medecine Sciences : M/S Feb 2022Polycystic ovary syndrome is a frequent endocrinopathy, affecting between 8% and 13% of women of childbearing age and characterized by hyperandrogenism, chronic...
Polycystic ovary syndrome is a frequent endocrinopathy, affecting between 8% and 13% of women of childbearing age and characterized by hyperandrogenism, chronic anovulation and polycystic ovary morphology. Women with PCOS also have a higher prevalence of obesity, metabolic disorders and an increased risk of diabetes, systemic hypertension and dyslipidemia. The first-line treatment for women with PCOS who do not plan to conceive in the short term includes lifestyle changes and combined oral contraceptives, offering, in addition to contraception, endometrial protection and reduction of hyperandrogenism. Progestin-only contraceptives are recommended for women with contraindications to estrogen contained in combined oral contraceptives. Cosmetic procedures can be added to pharmacological treatment for hirsutism. Severe cases may require anti-androgen drugs which will be combined with contraception. For overweight patients with cardiometabolic risk factors, including insulin resistance or dysglycemia, metformin may also be combined with contraception. In conclusion, the choice of contraception in women with PCOS includes an approach tailored to the individual needs of each patient.
Topics: Anovulation; Contraception; Female; Hirsutism; Humans; Hyperandrogenism; Polycystic Ovary Syndrome
PubMed: 35179472
DOI: 10.1051/medsci/2022002 -
The Journal of Clinical Endocrinology... May 2022The clinical use of dexamethasone (DEX) prenatally to reduce virilization of external genitalia in female fetuses with congenital adrenal hyperplasia (CAH) is efficient...
CONTEXT
The clinical use of dexamethasone (DEX) prenatally to reduce virilization of external genitalia in female fetuses with congenital adrenal hyperplasia (CAH) is efficient but still controversial. It remains challenging to prevent the excessive exposure of DEX in unborn healthy babies during the first trimester of pregnancy.
OBJECTIVE
Since endogenous glucocorticoids contribute to the maintenance of blood pressure (BP) and since events during fetal life may program the fetus and affect future metabolic health, the aim of this study was to analyze ambulatory BP measurements in CAH-unaffected children and adults that were prenatally exposed to DEX treatment.
METHODS
Ambulatory BP measurements were analyzed in 33 (16 female) DEX-treated participants aged 5.1 to 26.3 years (19 participants aged ≤ 18 years) and in 54 (28 female) age- and sex-matched apparently healthy controls aged 5.5 to 25.3 years (27 participants aged ≤ 18 years) with ambulatory normotension.
RESULTS
Participants' age, height, weight, and body mass index were similar between the DEX-treated group and the control group. Heart rate, 24-hour BP, pulse pressure, and nighttime dipping did not statistically significantly differ between DEX-treated participants and controls.
CONCLUSION
Our study suggests that prenatal DEX treatment in CAH-unaffected children and adults does not appear to adversely affect ambulatory BP later in life. Our observations need to be confirmed in larger studies.
Topics: Adrenal Hyperplasia, Congenital; Adult; Blood Pressure; Blood Pressure Monitoring, Ambulatory; Child; Dexamethasone; Female; Glucocorticoids; Humans; Pregnancy; Prenatal Exposure Delayed Effects; Virilism
PubMed: 35148399
DOI: 10.1210/clinem/dgac081 -
JAMA Dermatology Mar 2022While originally approved for the management of heart failure, hypertension, and edema, spironolactone is commonly used off label in the management of acne,... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
While originally approved for the management of heart failure, hypertension, and edema, spironolactone is commonly used off label in the management of acne, hidradenitis, androgenetic alopecia, and hirsutism. However, spironolactone carries an official warning from the US Food and Drug Administration regarding potential for tumorigenicity.
OBJECTIVE
To determine the pooled occurrence of cancers, in particular breast and prostate cancers, among those who were ever treated with spironolactone.
DATA SOURCES
PubMed, Cochrane Library, Embase, and Web of Science were searched from inception through June 11, 2021. The search was restricted to studies in the English language.
STUDY SELECTION
Included studies reported the occurrence of cancers in men and women 18 years and older who were exposed to spironolactone.
DATA EXTRACTION AND SYNTHESIS
Two independent reviewers (K.B. and H.H.) selected studies, extracted data, and appraised the risk of bias using the Newcastle-Ottawa Scale. Studies were synthesized using random effects meta-analysis.
MAIN OUTCOMES AND MEASURES
Cancer occurrence, with a focus on breast and prostate cancers.
RESULTS
Seven studies met eligibility criteria, with sample sizes ranging from 18 035 to 2.3 million and a total population of 4 528 332 individuals (mean age, 62.6-72.0 years; in the studies without stratification by sex, women accounted for 17.2%-54.4%). All studies were considered to be of low risk of bias. No statistically significant association was observed between spironolactone use and risk of breast cancer (risk ratio [RR], 1.04; 95% CI, 0.86-1.22; certainty of evidence very low). There was an association between spironolactone use and decreased risk of prostate cancer (RR, 0.79; 95% CI, 0.68-0.90; certainty of evidence very low). There was no statistically significant association between spironolactone use and risk of ovarian cancer (RR, 1.52; 95% CI, 0.84-2.20; certainty of evidence very low), bladder cancer (RR, 0.89; 95% CI, 0.71-1.07; certainty of evidence very low), kidney cancer (RR, 0.96; 95% CI, 0.85-1.07; certainty of evidence low), gastric cancer (RR, 1.02; 95% CI, 0.80-1.24; certainty of evidence low), or esophageal cancer (RR, 1.09; 95% CI, 0.91-1.27; certainty of evidence low).
CONCLUSIONS AND RELEVANCE
In this systematic review and meta-analysis, spironolactone use was not associated with a substantial increased risk of cancer and was associated with a decreased risk of prostate cancer. However, the certainty of the evidence was low and future studies are needed, including among diverse populations such as younger individuals and those with acne or hirsutism.
Topics: Acne Vulgaris; Aged; Breast Neoplasms; Female; Hirsutism; Humans; Male; Middle Aged; Prostatic Neoplasms; Spironolactone; United States
PubMed: 35138351
DOI: 10.1001/jamadermatol.2021.5866 -
Journal of Ayub Medical College,... 2021One of the leading causes of infertility in child bearing age females is polycystic ovary syndrome. It is characterized by altered hormonal profile causing androgen...
BACKGROUND
One of the leading causes of infertility in child bearing age females is polycystic ovary syndrome. It is characterized by altered hormonal profile causing androgen excess and insulin resistance which eventually leads to decreased ovulation rate.
METHODS
This was a crosssectional study that included 40 polycystic ovary syndrome (PCOS) patients and 40 infertility patients that did not have polycystic ovary syndrome determined by sonography and clinical features through quota sampling technique. Serum Total Testosterone and Sex Hormone Binding Globulin Levels were assayed. Using these two parameters, Free Androgen Index was calculated. Body Mass Index and central obesity was also determined.
RESULTS
Total Testosterone, Free Androgen Index and Body Mass Index were raised in PCOS group as indicated by p-value <0.05. Hirsutism was present in PCOS group (p-value <0.05). Sex Hormone Binding Globulin Levels were decreased in PCOS patients (p-value <0.05) but were within the lower half of normal range.
CONCLUSIONS
Levels of Sex Hormone Binding Globulin were decreased in PCOS cases and Free Androgen Index can help in better determining hyperandrogenaemia than total testosterone alone.
Topics: Androgens; Body Mass Index; Female; Hirsutism; Humans; Hyperandrogenism; Infertility; Polycystic Ovary Syndrome; Testosterone
PubMed: 35124911
DOI: No ID Found -
Pediatric Endocrinology, Diabetes, and... 2021Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and...
INTRODUCTION
Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles.
PATIENTS' REPORT
We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene.
DISCUSSION AND CONCLUSION
Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns' genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.
Topics: Adrenal Hyperplasia, Congenital; Female; Genitalia; Humans; Infant, Newborn; Mutation; Neonatal Screening; Puberty, Precocious; Steroid 21-Hydroxylase
PubMed: 35114771
DOI: 10.5114/pedm.2021.109123 -
Genes Nov 2021Mutations in the gene cause deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely...
Mutations in the gene cause deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents with primary amenorrhea or develops progressive virilization. The patient described in this paper represents a case of discrepancies between non-invasive prenatal testing (NIPT) and ultrasound based fetal sex determination detected during prenatal screening. Exome sequencing was performed on the cell free fetal DNA (cffDNA), amniotic fluid, and the parents. Libraries were generated according to the manufacturer's protocols using TruSight One Kits (Illumina Inc., San Diego, CA, USA). Sequencing was carried out on NEXT Seq 500 (Illumina) to mean sequencing depth of at least 100×. A panel of sexual disease genes was used in order to search for a causative variant. The finding of a mutation (c.645 A>T, p.Glu215Asp) in gene in amniotic fluid as well as in cffDNA and both parents supported the hypothesis of the deficiency. In conclusion, we used clinical exome sequencing and non-invasive prenatal detection, providing a solution for NIPT of a single-gene disorder. Early genetic diagnoses are useful for patients and clinicians, contribute to clinical knowledge of DSD, and are invaluable for genetic counseling of couples contemplating future pregnancies.
Topics: 17-Hydroxysteroid Dehydrogenases; Adult; Cell-Free Nucleic Acids; Disorder of Sex Development, 46,XY; Female; Genetic Testing; Gonadal Dysgenesis, 46,XY; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Mutation; Phenotype; Pregnancy; Prenatal Diagnosis; Sexual Development; Virilism; Exome Sequencing; Young Adult
PubMed: 34946839
DOI: 10.3390/genes12121890 -
Acta Endocrinologica (Bucharest,... 2021Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients.
BACKGROUND
Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients.
OBJECTIVES
To describe a rare case of HS with postmenopausal onset, to review the literature data regarding late onset HS and to discuss the current knowledge on the role of endocrine abnormalities in the development of HS.
CASE REPORT
We report the case of a 68-year-old patient in whom HS occurred 10 years after menopause. She was referred to our clinic for the presence of an open fistula on the left groin, fibrotic scars and visible alteration of the vulvar anatomy due to numerous surgical interventions. The patient shared features of the metabolic syndrome (obesity, arterial hypertension, dyslipidemia, aortic atherosclerosis), but showed no signs of virilism and no hormonal abnormality. HS was controlled using antiseptics, topical retinoids and antibiotics.
CONCLUSIONS
This case is of particular interest given the late onset of HS, long time after menopause. The development of HS requires a complex interaction between genetic predisposing factors, endocrine dysregulation, metabolic alterations, bacterial overgrowth and an aberrant inflammatory response. Evidence points to an important role of sex-hormones in the emergence and progression of the disease, but the underlying mechanisms are still unclear. A better understanding of HS pathogenesis is needed to elucidate the precise way in which endocrine factors influence the disease onset and course. This would guide the way to novel therapies and a better control of this challenging disease.
PubMed: 34925580
DOI: 10.4183/aeb.2021.274 -
Endokrynologia Polska 2022Polycystic ovary syndrome (PCOS) is a very common heterogeneous endocrine and gynaecological disease in reproductive women. Early identification and treatment of...
INTRODUCTION
Polycystic ovary syndrome (PCOS) is a very common heterogeneous endocrine and gynaecological disease in reproductive women. Early identification and treatment of patients are necessary to prevent future cardiometabolic and reproductive complications. In our study, we aimed to investigate whether Drosha, Exportin-5 (XPO5), and Dicer, which are involved in miRNA formation, are useful markers in the diagnosis of the disease.
MATERIAL AND METHODS
Patients who presented to our clinic with complaints such as menstrual irregularity, hirsutism, and acne were diagnosed with polycystic ovary after excluding other possible diagnoses, and if they meet two-thirds of the Rotterdam diagnostic criteria, they were included in the study. Thirty patients with polycystic ovaries and 35 healthy controls were included in this study.
RESULTS
The mean values of XPO5, Drosha, and Dicer markers were significantly higher in the PCOS group when compared with the control group. With an XPO5 value > 1.70, we found the PCOS with 94% probability, 86.7% sensitivity, and 91.4% specificity. Moreover, if the Drosha value was > 0.166, it was expected that the patient would be diagnosed as PCOS with a probability of 75%, with 66.7% sensitivity and 71.4% specificity. A statistically significant cut-off value could not be obtained for Dicer.
CONCLUSIONS
In our study, the levels of all three markers were found to be significantly higher in the PCOS group compared to the control group. It suggests that they can be used in the early diagnosis of PCOS patients without full-blown disease. However, this preliminary study should be supported by larger-scale studies.
Topics: DEAD-box RNA Helicases; Female; Hirsutism; Humans; Karyopherins; Polycystic Ovary Syndrome; Ribonuclease III
PubMed: 34855193
DOI: 10.5603/EP.a2021.0096