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BMC Endocrine Disorders Nov 2022Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features,... (Review)
Review
BACKGROUND
Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features, prognosis, and treatment choices for these patients of different age groups.
METHODS
This was a retrospective study. We identified nine cases of ovarian steroid cell tumor, not otherwise specified, confirmed by post-operative histopathological examination, and analyzed clinical features, surgical procedures, and follow up outcomes. We also reviewed cases reports of ovarian steroid cell tumors, not otherwise specified.
RESULTS
A total of nine cases were included. The age range was 9-68 years (mean, 41.89 ± 19.72 years). Clinical features included virilization, amenorrhea, abdominal pain, vaginal bleeding, isosexual precocious puberty, Cushing's syndrome, and abnormal weight gain with elevated testosterone levels. The follow up interval ranged 5-53 months and no recurrence was observed.
CONCLUSION
Ovarian steroid cell tumors covered all age groups, with manifestations of androgen excess. Younger patients appeared to have a more favorable prognosis, which provided more opportunities for these patients to pursue treatment options that will preserve reproductive function.
Topics: Female; Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Retrospective Studies; Sex Cord-Gonadal Stromal Tumors; Ovarian Neoplasms; Virilism; Steroids
PubMed: 36316664
DOI: 10.1186/s12902-022-01170-9 -
The Journal of Clinical Endocrinology... Feb 2023Ongoing research is needed to determine geo-epidemiologic differences of polycystic ovary syndrome (PCOS).
CONTEXT
Ongoing research is needed to determine geo-epidemiologic differences of polycystic ovary syndrome (PCOS).
OBJECTIVE
Determine hormonal and metabolic parameters of women with PCOS in 2 environments.
METHODS
Prospective cohort study.
SETTING
Tertiary-care based specialty clinics in Alabama and California.
PATIENTS OR OTHER PARTICIPANTS
A total of 1610 women with PCOS by National Institutes of Health Criteria from 1987 to 2010.
INTERVENTIONS
Interview, physical examination, laboratory studies.
MAIN OUTCOMES MEASURES
Demographic data, menstrual cycle history, and hormonal and metabolic parameters were collected. Hirsutism was defined as modified Ferriman-Gallwey scores ≥4. Androgen values greater than laboratory reference ranges or >95th percentile of all values were considered elevated (hyperandrogenemia). Metabolic parameters included body mass index (BMI), waist-hip-ratio (WHR), glucose tolerance test, and homeostatic model assessment for insulin resistance (HOMA-IR) scores.
RESULTS
Alabama women with PCOS were younger with a higher BMI. After adjustment for age and BMI, Alabama women with PCOS were more likely hirsute (adjusted odds ratio [aOR], 1.8; 95% CI, 1.4-2.4; P < 0.001), with elevated HOMA-IR scores (adjusted beta coefficient 3.6; 95% CI, 1.61-5.5; P < 0.001). California women with PCOS were more likely to have hyperandrogenemia (free testosterone aOR, 0.14; 95% CI, 0.11-0.18; P < 0.001; total testosterone aOR, 0.41; 95% CI, 0.33-0.51). Results were similar when stratified by White race. In Black women with PCOS, BMI and WHR did not differ between locations, yet differences in androgen profiles and metabolic dysfunction remained.
CONCLUSION
Alabama women with PCOS, regardless of Black or White race, were more likely hirsute with metabolic dysfunction, whereas California women with PCOS were more likely to demonstrate hyperandrogenemia, highlighting potential environmental impacts on PCOS.
Topics: Female; Humans; Androgens; Body Mass Index; Hirsutism; Hyperandrogenism; Insulin Resistance; Polycystic Ovary Syndrome; Prospective Studies; Testosterone; United States; White; Black or African American
PubMed: 36218376
DOI: 10.1210/clinem/dgac515 -
Journal of Pediatric Endocrinology &... Nov 2022The objective of our study was to describe the prevalence of gender diverse (GD) youth among adolescents with polycystic ovary syndrome (PCOS).
OBJECTIVES
The objective of our study was to describe the prevalence of gender diverse (GD) youth among adolescents with polycystic ovary syndrome (PCOS).
METHODS
We conducted a retrospective chart review on patients who met NIH criteria for PCOS in our Multidisciplinary Adolescent PCOS Program (MAPP). We compared those with PCOS to MAPP patients who did not meet PCOS criteria as well as to non-PCOS patients from the Adolescent Specialty Clinic (ASC). Variables analyzed included gender identity, androgen levels, hirsutism scores, and mood disorders. We used chi-square, Fisher's exact, t-tests, and Wilcoxon rank sum tests to compare groups. Gender identities self-reported as male, fluid/both or nonbinary were pooled into the GD category.
RESULTS
Within the MAPP, 7.6% (n=12) of PCOS youth self-identified as GD compared to 1.8% (n=3) of non PCOS youth (p=0.01, chi-square). When compared to non-PCOS GD adolescents from ASC (4.4%; n=3), the difference to PCOS youth was no longer significant (p=0.56). Among MAPP patients, gender diversity was associated with higher hirsutism scores (p<0.01), but not higher androgen levels. In PCOS, depression/anxiety was higher in GD vs cisgender youth (100% vs. 37.6%, p<0.01 and 77.8% vs. 35.8%, p=0.03 respectively).
CONCLUSIONS
Gender diversity was observed more commonly in those meeting PCOS criteria. PCOS GD youth were more hirsute and reported more depression/anxiety. Routine screening for differences in gender identity in comprehensive adolescent PCOS programs could benefit these patients, as alternate treatment approaches may be desired to support a transmasculine identity.
Topics: Adolescent; Humans; Female; Male; Polycystic Ovary Syndrome; Hirsutism; Gender Identity; Androgens; Retrospective Studies
PubMed: 36198004
DOI: 10.1515/jpem-2022-0249 -
Frontiers in Endocrinology 2022To define which ultrasound criteria could replace the classic Rotterdam criteria as the best indicator of the risk of developing endocrine-metabolic changes in women...
OBJECTIVE
To define which ultrasound criteria could replace the classic Rotterdam criteria as the best indicator of the risk of developing endocrine-metabolic changes in women with polycystic ovary syndrome (PCOS).
MATERIALS AND METHODS
This multicenter cross-sectional study included 200 women with PCOS and one control group of 111 women without PCOS. The primary outcomes to be considered were follicular count, hirsutism, total testosterone levels, free androgen index (FAI), and insulin sensitivity (HOMA-IR), and the secondary outcome was the anti-Müllerian hormone (AMH) level.
RESULTS
The main finding in this study points toward a different ultrasound criterion-23 or more follicles of any size in at least one ovary, which is postulated as an alternative to the classic criterion described in the Rotterdam consensus. This criterion correlates better with the other two PCOS criteria and also identifies women at increased risk of hirsutism (Ferriman-Gallwey score: 6.08 ± 3.54 vs. 4.44 ± 3.75, < 0.0001), total testosterone levels (2.24 ± 0.298 vs. 1.42 ± 1.530, = 0.0001), FAI (4.85 ± 0.83 vs. 2.12 ± 1.93, < 0.001), and insulin resistance (HOMA-IR: 1.74 ± 0.182 vs. 1.504 ± 0.230, = 0.001) more accurately. Regarding AMH, large differences in their mean values were observed between the groups (7.07 vs. 4.846 ng/ml, = 0.000). However, these differences depended on age.
CONCLUSION
The ovarian ultrasound examination with 23 or more follicles of any size in any of the ovaries constitutes a powerful tool to accurately diagnose PCOS and to associate it with metabolic-endocrine processes such as hyperandrogenism and insulin resistance.
Topics: Androgens; Anti-Mullerian Hormone; Cross-Sectional Studies; Female; Hirsutism; Humans; Insulin Resistance; Polycystic Ovary Syndrome; Testosterone
PubMed: 36120462
DOI: 10.3389/fendo.2022.915245 -
European Review For Medical and... Sep 2022Hirsutism affects 5-15% of women of reproductive age, with approximately 80% of these women having polycystic ovary syndrome (PCOS). The etiopathogenesis of PCOS remains...
OBJECTIVE
Hirsutism affects 5-15% of women of reproductive age, with approximately 80% of these women having polycystic ovary syndrome (PCOS). The etiopathogenesis of PCOS remains unclear, the clinical characteristics of PCOS include hyperandrogenism, generally manifested as hirsutism and acne, and both these clinical symptoms are treated with oral contraceptive pills (OCPs), topical medications or antiandrogens. Curcumin (diferuloylmethane) and Plant sterols, such as a phenylpropanoid glycosides of Ajuga reptans, known as Teupolioside, have attracted considerable attention due to their pharmacological properties. Taking into consideration wide-ranging pharmacological and biological properties and the safety of herbal extracts, we proposed a combination of curcumin and teupolioside to evaluate the anti-androgenic properties in women with PCOS and clinical signs of hyperandrogenism.
PATIENTS AND METHODS
Six hyperandrogenic PCOS women with a hirsutism score (HS) > 20, according to Ferriman-Gallwey scoring system, were involved in the study. These women were treated with a galenical preparation mixture containing curcumin and teupolioside and clinical features were assessed after 12 weeks.
RESULTS
The nutraceutical combination containing curcumin/teopolioside ameliorated clinical manifestations associated to hyperandrogenism in women with PCOS after a 12-weeks treatment.
CONCLUSIONS
This pilot study suggests that a curcumin/teopolioside nutraceutical combination is beneficial for improving various clinical manifestations associated to abnormal hormonal parameters in PCOS women, as well as signs and symptoms associated to hyperandrogenism.
Topics: Androgen Antagonists; Caffeic Acids; Contraceptives, Oral; Curcumin; Female; Hirsutism; Humans; Hyperandrogenism; Phytosterols; Pilot Projects; Polycystic Ovary Syndrome; Trisaccharides
PubMed: 36111918
DOI: 10.26355/eurrev_202209_29635 -
Cureus Aug 2022Congenital adrenal hyperplasia (CAH) is a set of autosomal recessive disorders characterized by enzyme abnormalities in the adrenal steroidogenesis pathway, which cause...
Congenital adrenal hyperplasia (CAH) is a set of autosomal recessive disorders characterized by enzyme abnormalities in the adrenal steroidogenesis pathway, which cause impaired cortisol biosynthesis. Glucocorticoid, mineralocorticoid, and sex steroid production can all be altered in individuals, necessitating hormone replacement therapy. The symptoms might range from prenatal salt loss and abnormal genitalia to adult hirsutism and irregular menses. We present the case of a girl who presented with a seizure initially at the age of three months. Laboratory results revealed hypoglycemia, hyponatremia, and hyperkalemia with increased renin activity, increased adrenocorticotropic hormone (ACTH), low aldosterone, low cortisol, high dehydroepiandrosterone sulfate (DHEAS), and high 17 hydroxyprogesterone levels. Imaging findings were normal. The patient was managed with hydrocortisone and fludrocortisone. She is currently on regular follow-up and is doing well with dexamethasone therapy.
PubMed: 36106234
DOI: 10.7759/cureus.27807 -
Frontiers in Endocrinology 2022Polycystic ovary syndrome (PCOS) exerts negative effects on females of childbearing age. It is important to identify more suitable models for fundamental research on...
Polycystic ovary syndrome (PCOS) exerts negative effects on females of childbearing age. It is important to identify more suitable models for fundamental research on PCOS. We evaluated animal models from a novel perspective with the aim of helping researchers select the best model for PCOS. RNA sequencing was performed to investigate the mRNA expression profiles in the ovarian tissues of mice with dehydroepiandrosterone (DHEA) plus high-fat diet (HFD)-induced PCOS. Meanwhile, 14 datasets were obtained from the Gene Expression Omnibus (GEO), including eight studies on humans, three on rats and three on mice, and genes associated with PCOS were obtained from the PCOSKB website. We compared the consistency of each animal model and human PCOS in terms of DEGs and pathway enrichment analysis results. There were 239 DEGs shared between prenatally androgenized (PNA) mice and PCOS patients. Moreover, 1113 genes associated with PCOS from the PCOSKB website were identified among the DEGs of PNA mice. A total of 134 GO and KEGG pathways were shared between PNA mice and PCOS patients. These findings suggest that the PNA mouse model is the best animal model to simulate PCOS.
Topics: Animals; Dehydroepiandrosterone; Diet, High-Fat; Disease Models, Animal; Female; Humans; Mice; Polycystic Ovary Syndrome; Rats; Virilism
PubMed: 36004354
DOI: 10.3389/fendo.2022.950105 -
Journal of Endocrinological... Jan 2023Androgen insensitivity syndrome (AIS) is caused by abnormal androgen receptor (AR) genes that show variable genotypes and phenotypes. However, the correlation between...
BACKGROUND
Androgen insensitivity syndrome (AIS) is caused by abnormal androgen receptor (AR) genes that show variable genotypes and phenotypes. However, the correlation between genotype and phenotype is unclear.
METHODS
We retrospectively evaluated 64 patients with AIS at Shanghai Children's Hospital from 2015 to 2022. We analysed the clinical data of the patients, including hormone levels, AR gene variants, and functional domains.
RESULTS
Variants occurred in the 3 major functional domains in 56 patients, including 23 patients with complete androgen insensitivity syndrome (CAIS) and 33 with partial androgen insensitivity syndrome (PAIS). The incidence of nonscrotal fusion (P = 0.019) and proximal urethral opening (P = 0.0002) in the ligand-binding domain (LBD) group was higher than that in the non-LBD group. The phallus length in the LBD group was significantly shorter than that in the non-LBD group (P = 0.009). The external masculinization score (EMS) in the LBD group was significantly lower than that in the non-LBD group (P = 0.013). The levels of inhibin-B (INHB; P = 0.0007), basal luteinizing hormone (LH; P = 0.033), LH peak (P = 0.002), and testosterone (T) after human chorionic gonadotropin (HCG) stimulation (P = 0.001) in the LBD group were higher than those in the non-LBD group. There were 53 variants in 64 patients, including 42 reported and 11 novel AR variants, including p.Met247Arg, p.Asp266Glyfs*39, p.Arg362Serfs*140, p.Ala385Val, p.Glu541Asp, p.Pro613Leu, p.Pro695Leu, p.Asn757Asp, c.1616 + 1dup, c.1886-1G > A and exon 5-7 deletion.
CONCLUSIONS
The EMS of patients with AIS in the LBD group was significantly lower than that in the non-LBD group. The phallus length was shorter, and the incidences of proximal urethral opening and nonscrotal fusion were higher, suggesting that the phenotypes in the LBD group were more severe. The levels of INHB, basal LH, peak LH, and T after HCG stimulation in the LBD group were higher than those in the non-LBD group, suggesting that androgen resistance in the LBD group was more severe. We identified 53 variants in 64 patients: 42 reported and 11 novel AR variants. These findings provide new and deeper insight into AIS diagnosis and genetic assessment of AIS.
Topics: Male; Child; Female; Humans; Androgen-Insensitivity Syndrome; Retrospective Studies; Receptors, Androgen; China; Androgens; Virilism; Mutation
PubMed: 35974208
DOI: 10.1007/s40618-022-01894-4 -
Journal of Pediatric and Adolescent... Dec 2022Infants with genital development considered atypical for assigned female sex may undergo feminizing genitoplasty (clitoroplasty and/or vaginoplasty) in early life. We... (Observational Study)
Observational Study
STUDY OBJECTIVE
Infants with genital development considered atypical for assigned female sex may undergo feminizing genitoplasty (clitoroplasty and/or vaginoplasty) in early life. We sought to identify factors associated with parent/caregiver decisions regarding genitoplasty for their children with genital virilization.
DESIGN
Longitudinal, observational study SETTING: Twelve pediatric centers in the United States with multidisciplinary differences/disorders of sex development clinics, 2015-2020 PARTICIPANTS: Children under 2 years old with genital appearance atypical for female sex of rearing and their parents/caregivers INTERVENTIONS/OUTCOME MEASURES: Data on the child's diagnosis and anatomic characteristics before surgery were extracted from the medical record. Parents/caregivers completed questionnaires on psychosocial distress, experience of uncertainty, cosmetic appearance of their child's genitalia, and demographic characteristics. Urologists rated cosmetic appearance. For 58 patients from the study cohort with genital virilization being raised as girls or gender-neutral, we compared these data across 3 groups based on the child's subsequent surgical intervention: (i) no surgery (n = 5), (ii) vaginoplasty without clitoroplasty (V-only) (n = 15), and (iii) vaginoplasty and clitoroplasty (V+C) (n = 38).
RESULTS
Fathers' and urologists' ratings of genital appearance were more favorable in the no-surgery group than in the V-only and V+C groups. Clitorophallic length was greater in the V+C group compared with the V-only group, with substantial overlap between groups. Mothers' depressive and anxious symptoms were lower in the no-surgery group compared with the V-only and V+C groups.
CONCLUSIONS
Surgical decisions were associated with fathers' and urologists' ratings of genital appearance, the child's anatomic characteristics, and mothers' depressive and anxious symptoms. Further research on surgical decision-making is needed to inform counseling practices.
Topics: Child; Female; Humans; Infant; Adrenal Hyperplasia, Congenital; Gynecologic Surgical Procedures; Parents; Plastic Surgery Procedures; Sexual Development; Virilism; Longitudinal Studies
PubMed: 35948206
DOI: 10.1016/j.jpag.2022.08.004 -
JBRA Assisted Reproduction Mar 2023Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects one in every 15 women worldwide. This disorder is mainly characterized by increased levels of male... (Review)
Review
OBJECTIVE
Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects one in every 15 women worldwide. This disorder is mainly characterized by increased levels of male hormones (androgens), acne, and hirsutism, and can lead to long-term insulin resistance, miscarriage, or even infertility in women. PCOS is a disorder that can be treated with natural and allopathic remedies that work against the PCOS mechanism. The present study reviews previous studies on the treatment of PCOS using natural drugs.
METHODS
The data in this study were collected from articles published in reputable databases including ScienceDirect, PubMed, Google Scholar, and SID in the field of medicinal plants from 1990 to 2021.
RESULTS
A review of the literature showed that plants such as aloe vera and chamomile improve fertility by increasing the number of ovarian follicles. Besides, Vitex agnus-castus and octane reduce hirsutism by reducing testosterone and androgen levels. It was also shown that liquorice, ginseng, cinnamon, and de chiro Inositol improve the adverse effects of diabetes caused by PCOS by lowering lipid and blood glucose levels. Moreover, Stachys lavandulifolia and fennel are effective in changing endometrial tissue parameters in PCOS by reducing estrogen and hyperplasia.
CONCLUSIONS
Various studies have shown that herbal medicines can improve PCOS symptoms in women with minimal side effects but a longer treatment cycle.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hirsutism; Infertility; Complementary Therapies
PubMed: 35916457
DOI: 10.5935/1518-0557.20220024