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The Journal of Clinical Endocrinology... Aug 2023The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (21OHD), which in the classic (severe) form occurs in roughly 1:16 000 newborns... (Review)
Review
The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (21OHD), which in the classic (severe) form occurs in roughly 1:16 000 newborns worldwide. Lifelong treatment consists of replacing cortisol and aldosterone deficiencies, and supraphysiological dosing schedules are typically employed to simultaneously attenuate production of adrenal-derived androgens. Glucocorticoid titration in 21OHD is challenging as it must balance the consequences of androgen excess vs those from chronic high glucocorticoid exposure, which are further complicated by interindividual variability in cortisol kinetics and glucocorticoid sensitivity. Clinical assessment and biochemical parameters are both used to guide therapy, but the specific purpose and goals of each biomarker vary with age and clinical context. Here we review the approach to medication titration for children and adults with classic 21OHD, with an emphasis on how to interpret adrenal biomarker values in guiding this process. In parallel, we illustrate how an understanding of the pathophysiologic and pharmacologic principles can be used to avoid and to correct complications of this disease and consequences of its management using existing treatment options.
Topics: Child; Adult; Humans; Infant, Newborn; Adrenal Hyperplasia, Congenital; Glucocorticoids; Hydrocortisone; Steroids; Biomarkers; Disease Management; Steroid 21-Hydroxylase
PubMed: 36950738
DOI: 10.1210/clinem/dgad134 -
International Journal of Women's... Oct 2023Differences of sex development (DSD or disorders of sex development) are uncommon congenital conditions, characterized by atypical development of chromosomal, gonadal,... (Review)
Review
BACKGROUND
Differences of sex development (DSD or disorders of sex development) are uncommon congenital conditions, characterized by atypical development of chromosomal, gonadal, or anatomic sex.
OBJECTIVE
Dermatologic care is an important component of the multidisciplinary care needed for individuals with DSD. This article discusses the most common primary dermatologic manifestations of DSD in addition to the cutaneous manifestations of hormonal and surgical therapies in individuals with DSD.
DATA SOURCES
Published articles including case series and case reports on PubMed.
STUDY SELECTIONS
Selection was conducted by examining existing literature with a team of multidisciplinary specialists.
METHODS
Narrative review.
LIMITATIONS
This article was not conducted as a systematic review.
RESULTS
In Klinefelter syndrome, refractory leg ulcers and incontinentia pigmenti have been described. Turner syndrome is associated with lymphatic malformations, halo nevi, dermatitis, and psoriasis. Virilization can be seen in some forms of congenital adrenal hyperplasia, where acne and hirsutism are common.
CONCLUSION
Dermatologists should consider teratogenic risk for treatments of skin conditions in DSD depending on pregnancy potential. Testosterone replacement, commonly used for Klinefelter syndrome, androgen insensitivity syndrome, 5-alpha reductase deficiency, gonadal dysgenesis, or ovotesticular DSD, may cause acne.
PubMed: 37671254
DOI: 10.1097/JW9.0000000000000106 -
International Heart Journal 2024
Topics: Humans; Adrenal Hyperplasia, Congenital; Hyperplasia
PubMed: 38296561
DOI: 10.1536/ihj.23-647 -
Journal of Ovarian Research Jul 2023Polycystic ovary syndrome (PCOS) is known as a prevalent but complicated gynecologic disease throughout the reproductive period. Typically, it is characterized by... (Review)
Review
Polycystic ovary syndrome (PCOS) is known as a prevalent but complicated gynecologic disease throughout the reproductive period. Typically, it is characterized by phenotypic manifestations of hyperandrogenism, polycystic ovary morphology, and persistent anovulation. For now, the therapeutic modality of PCOS is still a formidable challenge. Metabolic aberrations and immune challenge of chronic low-grade inflammatory state are significant in PCOS individuals. Recently, interleukin-22 (IL-22) has been shown to be therapeutically effective in immunological dysfunction and metabolic diseases, which suggests a role in the treatment of PCOS. In this review, we outline the potential mechanisms and limitations of IL-22 therapy in PCOS-related metabolic disorders including its regulation of insulin resistance, gut barrier, systemic inflammation, and hepatic steatosis to generate insights into developing novel strategies in clinical practice.
Topics: Female; Humans; Polycystic Ovary Syndrome; Interleukins; Hyperandrogenism; Anovulation; Insulin Resistance; Metabolic Syndrome; Interleukin-22
PubMed: 37525285
DOI: 10.1186/s13048-023-01236-9 -
Endocrinology and Metabolism Clinics of... Sep 2023Polycystic ovary syndrome (PCOS) affects around 10% of women in the reproductive age group and is characterized by ovulatory dysfunction, hyperandrogenism, and/or... (Review)
Review
Polycystic ovary syndrome (PCOS) affects around 10% of women in the reproductive age group and is characterized by ovulatory dysfunction, hyperandrogenism, and/or polycystic ovarian morphology. PCOS is highly associated with metabolic-associated fatty liver disease (MAFLD) as both diseases share common risk factors. At the time of diagnosis of PCOS, screening for MAFLD is necessary because most patients with MAFLD are asymptomatic. The importance of early detection of MAFLD in patients with PCOS is that a timely intervention in patients with steatosis or steatohepatitis can reduce the probability of liver disease progression.
Topics: Humans; Female; Polycystic Ovary Syndrome; Non-alcoholic Fatty Liver Disease; Risk Factors; Hyperandrogenism; Insulin Resistance
PubMed: 37495343
DOI: 10.1016/j.ecl.2023.01.005 -
Current Cardiology Reports Jun 2024Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder in women of reproductive age. It has been associated with metabolic, reproductive, and psychiatric... (Review)
Review
PURPOSE OF REVIEW
Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder in women of reproductive age. It has been associated with metabolic, reproductive, and psychiatric disorders. Despite its association with insulin resistance (IR) and cardiovascular disease (CVD) risk factors, the association between PCOS and CVD outcomes has been conflicting. This review reports the updated evidence between PCOS, insulin resistance, and CVD events.
RECENT FINDINGS
IR is highly prevalent occurring in 50 to 95% of general and obese PCOS women. The etiology of PCOS involves IR and hyperandrogenism, which lead to CVD risk factors, subclinical CVD, and CVD outcomes. Multiple studies including meta-analysis confirmed a strong association between PCOS and CVD events including ischemic heart disease, stroke, atrial fibrillation, and diabetes, particularly among premenopausal women, and these associations were mediated by metabolic abnormalities. PCOS is highly familial and has substantial CVD risk and transgenerational effects regardless of obesity. A personalized approach to the CVD risk assessment and management of symptom manifestations should be conducted according to its phenotypes. Lifestyle modifications and reduction in environmental stressors should be encouraged for CVD prevention among PCOS women.
Topics: Humans; Polycystic Ovary Syndrome; Insulin Resistance; Female; Cardiovascular Diseases; Obesity; Risk Factors; Risk Assessment; Heart Disease Risk Factors; Prevalence; Hyperandrogenism
PubMed: 38568339
DOI: 10.1007/s11886-024-02050-5 -
Obstetrics and Gynecology Clinics of... Dec 2023Polycystic ovary syndrome (PCOS) is a complex syndrome that affects menstrual regularity, causes hyperandrogenism, increases the risk of metabolic dysfunction and... (Review)
Review
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.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hyperandrogenism
PubMed: 37914488
DOI: 10.1016/j.ogc.2023.08.003 -
Annales D'endocrinologie Aug 2023Congenital adrenal hyperplasia (CAH) is a genetic disease caused by an enzyme deficiency interrupting adrenal steroidogenesis. It most frequently involves... (Review)
Review
Congenital adrenal hyperplasia (CAH) is a genetic disease caused by an enzyme deficiency interrupting adrenal steroidogenesis. It most frequently involves 21-hydroxylase, which induces adrenal insufficiency with hyperandrogenism. Restoring hormonal balance is difficult with glucocorticoids, which are the gold-standard treatment. Strict normalization of conventional biomarkers (17-hydroxyprogesterone and delta-4 androstenedione) is often obtained at the cost of iatrogenic hypercortisolism. Optimizing the management of these patients first involves using more specific biomarkers of adrenal steroidogenesis in difficult situations, and secondly using therapeutics targeting the induced hypothalamic-pituitary-adrenal axis disorder. 11-oxygenated androgens are candidates for biochemical monitoring of Congenital adrenal hyperplasia (CAH), in particular 11-ketotestosterone. Numerous new therapeutic agents are currently being explored, the prime goal being to reduce glucocorticoid exposure, as no strategy can fully replace it at present. They can be divided into 3 categories. The first includes "more physiological" hydrocortisone administration (modified-release hydrocortisone and continuous subcutaneous infusion of hydrocortisone hemisuccinate); the second includes corticotropin releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) receptor antagonists and anti-ACTH antibodies; and the third includes steroidogenesis inhibitors. Finally, experiments on gene and cell therapies suggest the possibility of lasting remission or even cure in the future.
Topics: Humans; Adult; Adrenal Hyperplasia, Congenital; Hydrocortisone; Hypothalamo-Hypophyseal System; Pituitary-Adrenal System; Glucocorticoids; Biomarkers
PubMed: 36842612
DOI: 10.1016/j.ando.2023.01.008 -
Hepatokines: the missing link in the development of insulin resistance and hyperandrogenism in PCOS?Hormones (Athens, Greece) Dec 2023The liver plays a critical role in several metabolic pathways, including the regulation of glucose and lipid metabolism. Non-alcoholic fatty liver disease (NAFLD), the... (Review)
Review
The liver plays a critical role in several metabolic pathways, including the regulation of glucose and lipid metabolism. Non-alcoholic fatty liver disease (NAFLD), the most common chronic liver disease worldwide, is closely associated with insulin resistance (IR) and metabolic syndrome (MetS). Hepatokines, newly discovered proteins secreted by hepatocytes, have been linked to the induction of these metabolic dysregulations. Polycystic ovary syndrome (PCOS), the most common endocrine disorder in women of reproductive age, has been associated with NAFLD and IR, while hyperandrogenism additionally appears to be implicated in the pathogenesis of the latter. However, the potential role of hepatokines in the development of metabolic disorders in PCOS has not been fully investigated. Therefore, the aim of this review is to critically appraise the current evidence regarding the interplay of hepatokines with NAFLD, hyperandrogenism, and IR in PCOS.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hyperandrogenism; Insulin Resistance; Non-alcoholic Fatty Liver Disease; Risk Factors
PubMed: 37704921
DOI: 10.1007/s42000-023-00487-x