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1.
Ann Med ; 56(1): 2357737, 2024 Dec.
Article in English | MEDLINE | ID: mdl-38965663

ABSTRACT

Polycystic ovary syndrome (PCOS) is an increasingly recognized endocrine disorder. The pathogenesis is not fully known. Polycystic ovary syndrome is still difficult to diagnose correctly, despite simple diagnostic criteria. The aim of the study is to review the current knowledge about PCOS and treatment options for patients with the disease. To explore this topic, publications were reviewed and conclusions drawn from them. The incidence of hyperandrogenism in a patient with PCOS may be as high as 60-80%. Increased androgen levels affect ovulation and menstruation, and also result in hirsutism and acne. Additionally, patients have problems with proper glucose tolerance (insulin resistance), type 2 diabetes, hypertension, cardiovascular diseases and metabolic syndrome. PCOS results in various symptoms in patients.The latest treatment methods were analysed. A standard review of publications in the field of diagnosis and treatment of PCOS, IR and hyperandrogenism was used.Lifestyle, especially diet, deserves special attention due to its ease of use. Sleep quality, physical activity and stress reduction are also important. Diet should be the treatment of first choice. Only if dietary intervention does not bring results, the doctor considers pharmacotherapy. Recently, acupuncture and herbal medicine, vagus nerve stimulation have been used in the treatment of PCOS and regulation of hormone levels. Patients are given supplementation to improve the quality of functioning, but it must be remembered that inappropriate doses or too long use may result in a toxic effect opposite to the therapeutic one.Appropriate diet, physical activity - lifestyle changes are crucial in the treatment of PCOS. Supplementation and pharmaceuticals support treatment. It is mandatory to examine these environmental and lifestyle factors as they not only contribute to the occurrence of the disease but also influence its progression.


Polycystic ovary syndrome (PCOS) is a complex metabolic and hormonal disorder that occurs in women. It manifests itself in menstrual disorders, changes in appearance related to excessive hair growth and acne. PCOS is also associated with the risk of other diseases, glucose tolerance (insulin resistance), type 2 diabetes, hypertension, cardiovascular diseases and metabolic syndrome. Polycystic ovary syndrome is still difficult to diagnose correctly, despite simple diagnostic criteria.The symptoms and course of the disease vary, specific to each patient. Patients struggle with PCOS, not being aware that it is a significant medical problem. The patients have always had problems with menstruation, so they think it is normal.The article reviews and describes various treatment methods: Hormone therapy, pharmacological methods, supplementation, non-pharmacological methods such as herbal medicine, acupuncture.


Subject(s)
Hyperandrogenism , Polycystic Ovary Syndrome , Polycystic Ovary Syndrome/therapy , Polycystic Ovary Syndrome/complications , Polycystic Ovary Syndrome/diagnosis , Humans , Female , Hyperandrogenism/therapy , Hyperandrogenism/etiology , Hyperandrogenism/diagnosis , Insulin Resistance , Life Style , Hirsutism/therapy , Hirsutism/etiology , Diabetes Mellitus, Type 2/therapy , Diabetes Mellitus, Type 2/complications , Exercise
2.
Obstet Gynecol Clin North Am ; 50(4): 695-705, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37914488

ABSTRACT

Polycystic ovary syndrome (PCOS) is a complex syndrome that affects menstrual regularity, causes hyperandrogenism, increases the risk of metabolic dysfunction and infertility, and is associated with higher rates of mental health disorders. The symptoms of PCOS are unique to each individual and will evolve throughout their reproductive lifespan and beyond. Thus, care should be personalized and provided by an appropriate team of multidisciplinary physicians and clinicians, such as dieticians and psychologists.


Subject(s)
Hyperandrogenism , Polycystic Ovary Syndrome , Female , Humans , Polycystic Ovary Syndrome/complications , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Hyperandrogenism/therapy , Hyperandrogenism/complications
3.
Chronobiol Int ; 40(8): 1004-1027, 2023 08.
Article in English | MEDLINE | ID: mdl-37548004

ABSTRACT

Environmental factors, such as sleep restriction, contribute to polycystic ovary syndrome (PCOS) by causing hyperinsulinemia, hyperandrogenism, insulin resistance, and oligo- or anovulation. This study aimed to evaluate the effects of circadian rhythm disruption on reproductive and metabolic functions and investigate the potential therapeutic benefits of MitoQ10 and hot tub therapy (HTT). Sixty female rats were divided into six groups: control, MitoQ10, HTT, and three groups with PCOS induced by continuous light exposure(L/L). The reproductive, endocrine, and structural manifestations ofL/L-induced PCOS were confirmed by serum biochemical measurements, ultrasound evaluation of ovarian size, and vaginal smear examination at week 14. Subsequently, the rats were divided into the L/L (untreated), L/L+MitoQ10-treated, andL/L+HTT-treated groups. At the end of week 22, all rats were sacrificed. Treatmentwith MitoQ10 or HTT partially reversed the reproductive, endocrine, and structural features of PCOS, leading to a decreased amplitude of isolated uterine contractions, ovarian cystic changes and size, and endometrial thickness. Furthermore, both interventions improved the elevated serum levels of anti-Mullerian hormone (AMH), kisspeptin, Fibulin-1, A disintegrin and metalloproteinase with thrombospondin motifs 19 (ADAMTS-19), lipid profile, homeostatic model assessment for insulin resistance (HOMA-IR), oxidative stress markers, androgen receptors (AR) and their transcription target genes, FKBP52 immunostaining in ovarian tissues, and uterine estrogen receptor alpha (ER-α) and PRimmunostaining. In conclusion, MitoQ10 supplementation and HTT demonstrated the potential for ameliorating metabolic, reproductive, and structural perturbations associated with PCOS induced by circadian rhythm disruption. These findings suggest a potential therapeutic role for these interventions in managing PCOS in women.


Subject(s)
Hyperandrogenism , Insulin Resistance , Polycystic Ovary Syndrome , Humans , Female , Rats , Animals , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Hot Temperature , Circadian Rhythm , Hyperandrogenism/therapy
4.
Curr Opin Pediatr ; 35(4): 494-499, 2023 08 01.
Article in English | MEDLINE | ID: mdl-37097290

ABSTRACT

PURPOSE OF REVIEW: The diagnostic criteria for polycystic ovary syndrome (PCOS) in adults may overdiagnose PCOS in adolescents. Since 2015, three guidelines have developed adolescent-specific diagnostic criteria and treatment recommendations. In this review, we compare and contrast the recommendations to assist in the practical application to clinical practice. RECENT FINDINGS: The guidelines agree that hyperandrogenism with menstrual irregularity be diagnostic criteria for PCOS in adolescents yet have slight differences in how to diagnose hyperandrogenism and in the definition of menstrual irregularity. The diagnostic option of 'at risk for PCOS' is recommended for those girls presenting with criteria within 3 years of menarche or with hyperandrogenism without menstrual irregularity, with re-assessment later in adolescence. Lifestyle changes is first line treatment. Treatment with combined oral contraceptives or metformin is suggested, using patient characteristics and preferences to guide decision-making. SUMMARY: PCOS is associated with long term reproductive and metabolic complications and will present during adolescence. Yet, diagnostic features may overlap with normal adolescent physiology. The recent guidelines strove to develop criteria to accurately identify girls with PCOS allowing early surveillance and treatment yet avoid overdiagnosis of normal adolescents.


Subject(s)
Hyperandrogenism , Metformin , Polycystic Ovary Syndrome , Female , Adult , Adolescent , Humans , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Polycystic Ovary Syndrome/complications , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Menstruation Disturbances/etiology , Life Style , Metformin/therapeutic use
5.
Am Fam Physician ; 107(3): 264-272, 2023 03.
Article in English | MEDLINE | ID: mdl-36920819

ABSTRACT

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age. Its complex pathophysiology includes genetic and environmental factors that contribute to insulin resistance in patients with this disease. The diagnosis of PCOS is primarily clinical, based on the presence of at least two of the three Rotterdam criteria: oligoanovulation, hyperandrogenism, and polycystic ovaries on ultrasonography. PCOS is often associated with hirsutism, acne, anovulatory menstruation, dysglycemia, dyslipidemia, obesity, and increased risk of cardiovascular disease and hormone-sensitive malignancies (e.g., at least a twofold increased risk of endometrial cancer). Lifestyle modification, including caloric restriction and increased physical activity, is the foundation of therapy. Subsequent management decisions depend on the patient's desire for pregnancy. In patients who do not want to become pregnant, oral contraceptives are first-line therapy for menstrual irregularities and dermatologic complications such as hirsutism and acne. Antiandrogens such as spironolactone are often added to oral contraceptives as second-line agents. In patients who want to become pregnant, first-line therapy is letrozole for ovulation induction. Metformin added to lifestyle management is first-line therapy for patients with metabolic complications such as insulin resistance. Patients with PCOS are at increased risk of depression and obstructive sleep apnea, and screening is recommended.


Subject(s)
Acne Vulgaris , Hyperandrogenism , Insulin Resistance , Polycystic Ovary Syndrome , Pregnancy , Humans , Female , Polycystic Ovary Syndrome/complications , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Hirsutism/diagnosis , Hirsutism/etiology , Hirsutism/therapy , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Contraceptives, Oral/therapeutic use , Acne Vulgaris/diagnosis , Acne Vulgaris/etiology , Acne Vulgaris/therapy
6.
Semin Reprod Med ; 40(1-02): e1-e8, 2022 03.
Article in English | MEDLINE | ID: mdl-36096151

ABSTRACT

Polycystic ovary syndrome (PCOS) is a common, complex, and chronic condition that presents many diagnostic and management challenges for managing clinicians. PCOS diagnosis in adolescents presents a particular challenge for treating clinicians due to the overlap of diagnostic features with normal physiological changes during adolescence. Adolescent diagnostic criteria include well-defined menstrual irregularity according to time postmenarche and hyperandrogenism, but does not require the use of pelvic ultrasound. Adolescents with only one criterion should be considered at risk of PCOS and be followed up around transition to adult care. While PCOS was traditionally considered to be a reproductive disorder, PCOS is now recognized to have major metabolic and cardiovascular health consequences and psychological sequelae that can be present from adolescence. Management of PCOS includes healthy lifestyle, metformin, combined oral contraceptive pill, and/or antiandrogens according to symptoms of concern even in adolescents at risk of PCOS.


Subject(s)
Hyperandrogenism , Polycystic Ovary Syndrome , Adolescent , Female , Humans , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Menstruation Disturbances/complications , Polycystic Ovary Syndrome/complications , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Ultrasonography
7.
Rev Bras Ginecol Obstet ; 44(4): 425-433, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35623621

ABSTRACT

Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging since normal pubertal development overlap typical features of this syndrome. The authors aim to summarize the existing evidence concerning PCOS in adolescence, particularly its diagnostic criteria and therapeutic options. A search throughout medical databases such as PubMed and MedScape was performed. Diagnostic criteria include irregular menstrual cycles according to time postmenarche and evidence of clinical hyperandrogenism and/or biochemical hyperandrogenism, provided other causes have been excluded. Polycystic ovarian morphology ought not to be used as a diagnostic criterion. Treatment should target manifestations and/or comorbidities, even in the absence of a definite diagnosis. Lifestyle interventions are the first-line treatment. Combined oral contraceptives, metformin or antiandrogens may also be considered as adjuvants. Screening for PCOS in adolescence is crucial as it allows an early intervention on the symptoms and comorbidities presented leading to better long-term reproductive and metabolic outcomes.


Diagnosticar a síndrome do ovário policístico (SOP) durante a adolescência é um desafio, uma vez que o desenvolvimento puberal normal se sobrepõe às características típicas desta síndrome. Os autores têm por objetivo resumir as evidências existentes sobre a SOP na adolescência, particularmente seus critérios diagnósticos e opções terapêuticas. Uma pesquisa em bases de dados médicas como PubMed e MedScape foi realizada. Os critérios de diagnóstico incluem ciclos menstruais irregulares de acordo com o tempo pós-menarca e evidência de hiperandrogenismo clínico e/ou hiperandrogenismo bioquímico, após exclusão de outras causas. A morfologia policística dos ovários não deve ser usada como um critério diagnóstico. O tratamento deve ser direcionado às manifestações e/ou comorbilidades, mesmo na ausência de um diagnóstico definitivo. As intervenções no estilo de vida são o tratamento de primeira linha. Contraceptivos orais combinados, metformina ou antiandrogênios também podem ser considerados como adjuvantes. O rastreamento da SOP na adolescência é fundamental, pois permite uma intervenção precoce ao nível dos sintomas e comorbilidades presentes levando a melhores resultados reprodutivos e metabólicos a longo prazo.


Subject(s)
Hyperandrogenism , Metformin , Polycystic Ovary Syndrome , Adolescent , Female , Humans , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Life Style , Menstruation Disturbances/drug therapy , Metformin/therapeutic use , Polycystic Ovary Syndrome/drug therapy , Polycystic Ovary Syndrome/therapy
8.
Int J Mol Sci ; 23(8)2022 Apr 08.
Article in English | MEDLINE | ID: mdl-35456928

ABSTRACT

Polycystic ovary syndrome (PCOS) is a heterogeneous and extremely common disease with symptoms that vary with the age of the patient, typically characterized by hyperandrogenism, chronic oligo-anovulation, and/or several metabolic disorders. The syndrome includes various phenotypes, and the pathogenesis is multifactorial, often involving insulin resistance. This feature is closely related to ovarian dysfunction, inflammation, hyperandrogenism, and metabolic disorders, which characterize and complicate the syndrome. Therapy currently considers both lifestyle improvements and medications, and must be tailored on a case-by-case basis. To date, the published studies have not arrived at a definition of the most suitable therapy for each individual case and many of the drugs used are still off-label. In this review, we discuss some controversial diagnostic and therapeutic aspects of PCOS, such as the role of insulin resistance, inflammation, and hyperandrogenism. We also evaluated the advantages and disadvantages of contraceptive therapy and antiandrogens.


Subject(s)
Hyperandrogenism , Insulin Resistance , Metabolic Diseases , Polycystic Ovary Syndrome , Female , Humans , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Inflammation/complications , Inflammation/diagnosis , Inflammation/therapy , Male , Metabolic Diseases/complications , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/etiology , Polycystic Ovary Syndrome/therapy
9.
FP Essent ; 515: 26-31, 2022 04.
Article in English | MEDLINE | ID: mdl-35420404

ABSTRACT

It is estimated that polycystic ovary syndrome (PCOS) affects about 10% of women of reproductive age in the United States. Principal risk factors include obesity and a family history of PCOS. A diagnosis of PCOS should be considered in women with irregular or absent menstrual cycles, issues related to hyperandrogenism, or infertility. The Rotterdam diagnostic criteria require two of the following three factors: oligo- or anovulation, clinical and/or biochemical signs of hyperandrogenism, and polycystic ovaries identified on ultrasonography. Laboratory tests are recommended to rule out other conditions and factors, including thyroid conditions, hyperprolactinemia, atypical congenital adrenal hyperplasia, and tumors. The mainstays of treatment are lifestyle changes to achieve weight loss and combination oral contraceptives (COCs). (PCOS is an off-label use of COCs.) A weight loss of 5% to 10% has been shown to decrease PCOS symptoms. Medical or surgical management of obesity may be indicated. COCs provide endometrial protection and help manage acne and hirsutism. (Hirsutism is an off-label use of COCs. Acne is an off-label use of some COCs.) Routine acne treatments also are used. Hirsutism may improve with topical cosmetic treatments, spironolactone, or finasteride. (Hirsutism is an off-label use of spironolactone and finasteride.) Infertility is a common issue in patients with PCOS. The aromatase inhibitor letrozole is the first-line treatment for PCOS-related anovulation. Gonadotropin-releasing hormone analogues also are used to induce ovulation. (This is an off-label use of letrozole and gonadotropin-releasing hormone analogues.).


Subject(s)
Acne Vulgaris , Anovulation , Hyperandrogenism , Infertility , Polycystic Ovary Syndrome , Acne Vulgaris/complications , Anovulation/diagnosis , Female , Finasteride/therapeutic use , Gonadotropin-Releasing Hormone/therapeutic use , Hirsutism/diagnosis , Hirsutism/etiology , Hirsutism/therapy , Humans , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Letrozole/therapeutic use , Male , Obesity/complications , Obesity/therapy , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Spironolactone/therapeutic use , Weight Loss
10.
JAAPA ; 34(10): 15-22, 2021 Oct 01.
Article in English | MEDLINE | ID: mdl-34524161

ABSTRACT

ABSTRACT: Polycystic ovary syndrome (PCOS), characterized by ovulatory dysfunction and hyperandrogenism, is one of the most common endocrine disorders in women of reproductive age. Early diagnosis can help clinicians address associated long-term metabolic and reproductive health complications and mitigate the negative effects of PCOS on a patient's mental health and quality of life. Clinicians often are challenged by the diagnosis and management of PCOS because of controversies around diagnostic criteria, especially for adolescents. The International Consortium of Paediatric Endocrinology 2017 Consensus Statement provides practical guidance for clinicians to implement best practices for the identification, diagnosis, and management of PCOS in adolescents.


Subject(s)
Hyperandrogenism , Polycystic Ovary Syndrome , Adolescent , Child , Female , Humans , Hyperandrogenism/diagnosis , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Quality of Life
11.
Reprod Biomed Online ; 43(2): 298-309, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34238659

ABSTRACT

RESEARCH QUESTION: What is the effect of weight loss through different interventions (three-component lifestyle intervention with short message service [SMS+] versus three-component lifestyle intervention without SMS [SMS-] versus care as usual [CAU]) on polycystic ovary syndrome (PCOS) characteristics (ovulatory dysfunction, hyperandrogenism, polycystic ovarian morphology [PCOM]) and phenotype distribution? DESIGN: Analysis of secondary outcome measures of a randomized controlled trial. Women diagnosed with PCOS (n = 183), who wished to become pregnant, with a body mass index above 25 kg/m², were assigned to a 1-year three-component (cognitive behavioural therapy, diet, exercise) lifestyle intervention group, with or without SMS, or to CAU (advice to lose weight). RESULTS: The prevalence of biochemical hyperandrogenism was 30.9% less in the SMS- group compared with CAU after 1 year (P = 0.027). Within-group analyses revealed significant improvements in ovulatory dysfunction (SMS+: -39.8%, P = 0.001; SMS-: -30.5%, P = 0.001; CAU: -32.1%, P < 0.001), biochemical hyperandrogenism (SMS-: -27.8%, P = 0.007) and PCOM (SMS-: -14.0%, P = 0.034). Weight loss had a significantly favourable effect on the chance of having ovulatory dysfunction (estimate 0.157 SE 0.030, P < 0.001) and hyperandrogenism (estimate 0.097 SE 0.027, P < 0.001). CONCLUSIONS: All groups demonstrated improvements in PCOS characteristics, although these were more profound within the lifestyle intervention groups. Weight loss per se led to an amelioration of diagnostic characteristics and in the phenotype of PCOS. A three-component lifestyle intervention aimed at a 5-10% weight loss should be recommended for all women with PCOS before they become pregnant.


Subject(s)
Life Style , Polycystic Ovary Syndrome/pathology , Polycystic Ovary Syndrome/therapy , Adult , Female , Humans , Hyperandrogenism/complications , Hyperandrogenism/pathology , Hyperandrogenism/therapy , Netherlands , Obesity/complications , Obesity/pathology , Obesity/therapy , Ovarian Diseases/complications , Ovarian Diseases/pathology , Ovarian Diseases/therapy , Ovulation/physiology , Patient Acuity , Phenotype , Polycystic Ovary Syndrome/complications , Preconception Care/methods , Reminder Systems/instrumentation , Risk Reduction Behavior , Text Messaging , Treatment Outcome , Weight Loss/physiology
12.
Endocrinol Metab Clin North Am ; 50(1): 97-111, 2021 03.
Article in English | MEDLINE | ID: mdl-33518189

ABSTRACT

Evidence of clinical and/or biochemical androgen excess poses a unique differential in postmenopausal women. Some signs and symptoms of postmenopausal hyperandrogenism can be normal and attributed to the natural aging process. However, the causes of androgen excess in this group include both nontumorous and tumorous causes. Treatment of androgen excess may improve both quality of life and long-term metabolic outcomes.


Subject(s)
Hyperandrogenism , Female , Humans , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Postmenopause , Quality of Life , Testosterone
13.
Rev. chil. endocrinol. diabetes ; 14(2): 81-89, 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1283557

ABSTRACT

La Hiperplasia Suprarrenal Congénita (HSRC) corresponde a un grupo de defectos genéticos en la síntesis de cortisol. El 95% de ellas son debidas al déficit de 21-hidroxilasa por lo que nos referiremos solo a esta deficiencia. La hiperplasia suprarrenal congénita clásica (HSRC-C) debuta en recién nacidos o lactantes con insuficiencia suprarrenal primaria, diferentes grados de hiperandrogenismo clínico en mujeres y puede coexistir con hipotensión, hiperkalemia e hiponatremia si hay un déficit clínico de aldosterona. El objetivo de este artículo es actualizar el conocimiento y enfoques sugeridos para el manejo de la HSRC-C desde el inicio de sus controles en la etapa adulta. El diagnóstico diferencial en retrospectiva de la HSRC-C y la no clásica (HSRC-NC) a veces resulta difícil ya que esta enfermedad es un espectro fenotípico continuo. La insuficiencia suprarrenal y la dependencia a terapia corticoidal son los eventos principales para diferenciar estas dos patologías que tienen enfoques terapéuticos diferentes. El tratamiento de la HSRC-C en adultos abarca 2 objetivos primarios: la adecuada sustitución de la falla suprarrenal y el control de hiperandrogenismo mediante el uso de corticoides en sus dosis mínimas efectivas. En la mujer existen terapias complementarias para el control del hiperandrogenismo como anticonceptivos y otras que se encuentran en diferentes fases de investigación. Esto permite disminuir las dosis de corticoides en algunos casos. Es importante a la vez abordar tres objetivos secundarios: controlar el riesgo cardiometabólico propio de la enfermedad, evitar el sobre tratamiento corticoidal y manejar la infertilidad. La correcta monitorización del tratamiento en adultos tomando en cuenta los objetivos descritos permite una mejor calidad de vida en estos pacientes. Finalmente el consejo genético debe realizarse en todos los pacientes con HSRC que deseen fertilidad y en sus parejas. El estudio requiere de secuenciación del gen CYP21A2 y debe realizarse en un laboratorio de experiencia.


Congenital Adrenal Hyperplasia (CAH) are a group of genetic defects characterized by impaired cortisol synthesis. 95% of them are due to 21-hydroxylase deficiency. We will discuss only this enzyme's deficiency. Classic congenital adrenal hyperplasia (CAH-C) debuts in newborns or infants with primary adrenal insufficiency, some degree of clinical hyperandrogenism in newborn females, and can coexist with hypotension, hyperkalemia, and hyponatremia if there is a clinical aldosterone deficiency. The objective of this article is to update the knowledge and suggested approaches for the management of CAH-C from the beginning of its controls in the adult stage. The retrospective differential diagnosis of CAH-C and non-classical (CAH-NC) is sometimes difficult because this disease is a continuous phenotypic spectrum. Adrenal insufficiency and dependence on corticosteroid therapy are the main events to differentiate these two pathologies that have different therapeutic approaches. In adults, the treatment of CAH-C must include 2 primary objectives: adequate the replacement of adrenal failure and control of hyperandrogenism, through the use of corticosteroids in their minimum effective doses. In women there are complementary therapies for the control of hyperandrogenism, such as contraceptives and others that are in different phases of research. This makes it possible to reduce the doses of corticosteroids in some cases. It is important at the same time to address three secondary objectives: control the cardiometabolic risk of the disease secondary to corticosteroid treatment, avoid corticosteroid overtreatment and manage infertility. The correct monitoring of treatment in adults and taking in to account the objectives described, allows a better quality of life in these patients. Finally, genetic counseling must be carried out in all patients planning for children, with any type of CAH and in their partners. The study requires sequencing of the CYP21A2 gene and must be performed in a certified laboratory.


Subject(s)
Humans , Adrenal Hyperplasia, Congenital/therapy , Steroid 21-Hydroxylase , Adrenal Cortex Hormones/therapeutic use , Adrenal Insufficiency/etiology , Adrenal Insufficiency/therapy , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Metabolic Syndrome/prevention & control , Flutamide/therapeutic use , Genetic Counseling , Infertility/etiology , Infertility/therapy
14.
BMJ Case Rep ; 13(4)2020 Apr 09.
Article in English | MEDLINE | ID: mdl-32276996

ABSTRACT

HAIR-AN-a syndrome of hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN)-is a specific subphenotype of polycystic ovary syndrome (PCOS), and it is seen in almost 5% of all women with hyperandrogenism. An adolescent girl aged 11 years old was referred with adrenarche, hyperandrogenism and obesity commencing at age 8. Clinical and biochemical investigations confirmed significant hyperandrogenism and insulin resistance, and a diagnosis of HAIR-AN syndrome was made after exclusion of other differential diagnoses. HAIR-AN syndrome is an important diagnosis for the adolescent gynaecologist to be aware of, and it requires a multidisciplinary approach, including endocrinology input, for optimal management. Weight loss, lifestyle modification and combined hormonal pill and metformin are considered first-line treatment.


Subject(s)
Acanthosis Nigricans/diagnosis , Hyperandrogenism/diagnosis , Polycystic Ovary Syndrome/diagnosis , Acanthosis Nigricans/therapy , Child , Contraceptives, Oral, Hormonal/therapeutic use , Female , Humans , Hyperandrogenism/therapy , Insulin Resistance , Metformin/therapeutic use , Phenotype , Polycystic Ovary Syndrome/therapy , Weight Loss
15.
Transl Res ; 219: 13-29, 2020 05.
Article in English | MEDLINE | ID: mdl-32119846

ABSTRACT

The mechanisms underlying metabolic and reproductive dysfunction caused by arrhythmic circadian clock and their involvement in polycystic ovary syndrome (PCOS) are not understood. Here, we addressed this issue using rats with constant light or darkness exposure for 8 weeks and human leukocytes and serum of PCOS and non-PCOS patients. Additionally, we utilized HepG2 cells and KGN cells to verify the molecular mechanisms. The arrhythmic expressions of circadian clock genes due to constant darkness induced the metabolic and reproductive hallmarks of PCOS in rats. After exposure to constant darkness, decreased brain and muscle ARNT-like protein 1 (BMAL1) promoted insulin resistance via glucose transporter 4 (GLUT4), and decreased period (PER) 1 and PER2 promoted androgen excess via insulin-like growth factor-binding protein 4 (IGFBP4) and sex hormone binding globulin (SHBG) in the liver. Hyperinsulinemia and hyperandrogenism shared a bidirectional link promoting aberrant expression of circadian genes and inducing apoptosis of ovarian granulosa cells. Notably, the altered expressions of circadian clock genes in darkness-treated rats matched those of PCOS patients. Furthermore, melatonin treatment relieved the hyperinsulinemia and hyperandrogenism of darkness-treated rats via BMAL1, PER1, and PER2. Restoring normal light/dark exposure for 2 weeks reversed these conditions via BMAL1. In conclusion, our findings elucidated the critical function of circadian clock genes, especially BMAL1, PER1, and PER2 in PCOS, which might aid the development of feasible preventive and therapeutic strategies for PCOS in women with biorhythm disorder.


Subject(s)
Circadian Clocks , Darkness , Hyperandrogenism/therapy , Insulin Resistance , Polycystic Ovary Syndrome/physiopathology , ARNTL Transcription Factors/metabolism , Animals , Apoptosis/physiology , Female , Granulosa Cells/pathology , Hyperandrogenism/physiopathology , Insulin/physiology , Liver/metabolism , Rats , Rats, Sprague-Dawley , Testosterone/physiology
16.
Expert Opin Pharmacother ; 21(2): 207-211, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31893931

ABSTRACT

Introduction: Approximately 1% of adolescents have polycystic ovary syndrome (PCOS) and almost 40-70% of these patients are overweight or obese. Obese adolescents with PCOS have more severe insulin resistance and hyperandrogenemia, a more adverse lipid profile and a worse quality of life than normal-weight adolescents with PCOS. Accordingly, weight loss is an important component of the management of these patients.Areas covered: The authors discuss the different options for weight loss in obese adolescents with PCOS. Lifestyle changes appear to be effective but adherence to this intervention is suboptimal. There are also limited data regarding the optimal diet in this population. Few small studies have evaluated the effects of pharmacotherapy in these patients. Conflicting data have been reported regarding the effects of metformin on body weight. Notably, agents that have been approved for weight loss in adults have not been evaluated in adolescents with PCOS.Expert opinion: More studies are needed to identify the most appropriate diet for obese adolescents with PCOS. Well-designed randomized controlled studies are also needed to define the safety and efficacy of pharmacotherapy in this population.


Subject(s)
Life Style , Pediatric Obesity/therapy , Polycystic Ovary Syndrome/therapy , Adolescent , Female , Humans , Hyperandrogenism/therapy , Insulin Resistance , Metformin/therapeutic use , Quality of Life , Randomized Controlled Trials as Topic , Weight Loss
18.
Obstet Gynecol ; 134(4): 888-889, 2019 10.
Article in English | MEDLINE | ID: mdl-31568360

ABSTRACT

Although androgen excess can manifest in many ways, the most common and recognizable symptoms are hirsutism and acne. Reports of hirsutism and acne should be taken seriously because of their possible association with medical disorders, their substantial effect on self-esteem and quality of life, and the potential for psychosocial morbidity. In patients with symptoms of androgen excess, the differential diagnosis should include physiologic hyperandrogenism of puberty, idiopathic hyperandrogenism, and polycystic ovary syndrome (PCOS). There is a great deal of overlap between the symptoms of PCOS and those of normal puberty, which makes the diagnosis of PCOS in the adolescent difficult. Treatment of acne and hirsutism should not be withheld during the ongoing longitudinal evaluation for possible PCOS. On physical examination, body mass index, blood pressure, and signs of hyperandrogenism, such as acne and hirsutism, should be evaluated. Although guidelines differ on recommended laboratory studies, most include measurement of total testosterone, free testosterone, or both, and screening for nonclassic congenital adrenal hyperplasia with a 17-hydroxyprogesterone test. Elevation of the free or total testosterone level higher than the adult female normative values is a key diagnostic feature of biochemical hyperandrogenism. Because treatment is indicated only when symptoms are distressing to the patient, the degree to which acne or hirsutism bothers the patient should be assessed. Before initiation of any medical therapy, expectations of treatment should be discussed with the patient. Anticipatory guidance is critical to help patients understand the timeline for expected responses to therapy.


Subject(s)
Hyperandrogenism/diagnosis , Adolescent , Disease Management , Female , Humans , Hyperandrogenism/therapy
19.
Obstet Gynecol ; 134(4): e106-e114, 2019 10.
Article in English | MEDLINE | ID: mdl-31568365

ABSTRACT

Although androgen excess can manifest in many ways, the most common and recognizable symptoms are hirsutism and acne. Reports of hirsutism and acne should be taken seriously because of their possible association with medical disorders, their substantial effect on self-esteem and quality of life, and the potential for psychosocial morbidity. In patients with symptoms of androgen excess, the differential diagnosis should include physiologic hyperandrogenism of puberty, idiopathic hyperandrogenism, and polycystic ovary syndrome (PCOS). There is a great deal of overlap between the symptoms of PCOS and those of normal puberty, which makes the diagnosis of PCOS in the adolescent difficult. Treatment of acne and hirsutism should not be withheld during the ongoing longitudinal evaluation for possible PCOS. On physical examination, body mass index, blood pressure, and signs of hyperandrogenism, such as acne and hirsutism, should be evaluated. Although guidelines differ on recommended laboratory studies, most include measurement of total testosterone, free testosterone, or both, and screening for nonclassic congenital adrenal hyperplasia with a 17-hydroxyprogesterone test. Elevation of the free or total testosterone level higher than the adult female normative values is a key diagnostic feature of biochemical hyperandrogenism. Because treatment is indicated only when symptoms are distressing to the patient, the degree to which acne or hirsutism bothers the patient should be assessed. Before initiation of any medical therapy, expectations of treatment should be discussed with the patient. Anticipatory guidance is critical to help patients understand the timeline for expected responses to therapy.


Subject(s)
Acne Vulgaris/drug therapy , Androgen Antagonists/therapeutic use , Hirsutism/drug therapy , Hyperandrogenism/diagnosis , Acne Vulgaris/etiology , Adolescent , Female , Hirsutism/etiology , Humans , Hyperandrogenism/complications , Hyperandrogenism/therapy
20.
Am Fam Physician ; 100(3): 168-175, 2019 08 01.
Article in English | MEDLINE | ID: mdl-31361105

ABSTRACT

Hirsutism is the excessive growth of terminal hair in a typical male pattern in a female. It is often a sign of excessive androgen levels. Although many conditions can lead to hirsutism, polycystic ovary syndrome and idiopathic hyperandrogenism account for more than 85% of cases. Less common causes include idiopathic hirsutism, nonclassic congenital adrenal hyperplasia, androgen-secreting tumors, medications, hyperprolactinemia, thyroid disorders, and Cushing syndrome. Women with an abnormal hirsutism score based on the Ferriman-Gallwey scoring system should be evaluated for elevated androgen levels. Women with rapid onset of hirsutism over a few months or signs of virilization are at high risk of having an androgen-secreting tumor. Hirsutism may be treated with pharmacologic agents and/or hair removal. Recommended pharmacologic therapies include combined oral contraceptives, finasteride, spironolactone, and topical eflornithine. Because of the length of the hair growth cycle, therapies should be tried for at least six months before switching treatments. Hair removal methods such as shaving, waxing, and plucking may be effective, but their effects are temporary. Photoepilation and electrolysis are somewhat effective for long-term hair removal but are expensive.


Subject(s)
Adrenal Hyperplasia, Congenital/complications , Cushing Syndrome/complications , Hirsutism/etiology , Hyperandrogenism/complications , Hyperprolactinemia/complications , Neoplasms/complications , Polycystic Ovary Syndrome/complications , Thyroid Diseases/complications , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/therapy , Androgen Antagonists/therapeutic use , Antineoplastic Agents, Hormonal/therapeutic use , Contraceptives, Oral, Hormonal/therapeutic use , Cushing Syndrome/diagnosis , Cushing Syndrome/therapy , Drug-Related Side Effects and Adverse Reactions , Eflornithine/therapeutic use , Female , Glucocorticoids/therapeutic use , Gonadotropin-Releasing Hormone/agonists , Hair Removal , Hirsutism/diagnosis , Hirsutism/therapy , Humans , Hyperandrogenism/diagnosis , Hyperandrogenism/therapy , Hyperprolactinemia/diagnosis , Hyperprolactinemia/therapy , Leuprolide/therapeutic use , Mineralocorticoid Receptor Antagonists/therapeutic use , Neoplasms/diagnosis , Neoplasms/therapy , Ornithine Decarboxylase Inhibitors/therapeutic use , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/therapy , Spironolactone/therapeutic use , Thyroid Diseases/diagnosis , Thyroid Diseases/therapy
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