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Revista Da Associacao Medica Brasileira... Dec 2020There is no pooled information about pelvic floor parameters (muscle assessment, disorders) of women with gynecologicaL endocrinopathies (eg. polycystic ovary syndrome,...
There is no pooled information about pelvic floor parameters (muscle assessment, disorders) of women with gynecologicaL endocrinopathies (eg. polycystic ovary syndrome, congenital adrenal hyperplasia, premature ovarian insufficiency). Given that, a systematic review was performed on the Pubmed, Scopus, Google Scholar, Scielo and PEDro databases regarding the main gynecological endocrinopathies [polycystic ovary syndrome (PCOS), premature ovarian insufficiency (POI), congenital adrenal hyperplasia (CAH) and hyperprolactinemia (HPL)] since their inception to April 2020. Data quality assessment was made by the Newcastle-Ottawa Scale (NOS) adapted for cross-sectional studies. A total of 4,272 results were retrieved from all databases. After excluding duplicate results and screening by title and abstract, nine studies were selected for quantitative analysis. Seven studies were performed with women with PCOS and two studies with POI. Women with PCOS presented a higher prevalence of urinary incontinence (UI) among obese women, a higher thickness of the levator ani muscle, and higher levels of muscle activity measured by surface electromyograph when compared to the control women. Regarding POI, there was no association with UI, FI, and POP. NOS found that the quality assessment for these selected studies ranged from 5 to 8. We concluded that higher pelvic muscle activity and volume were found in women with PCOS, with further studies needed to confirm this data. Literature was scant about POI, CAH, and HPL.
Topics: Cross-Sectional Studies; Female; Humans; Pelvic Floor; Polycystic Ovary Syndrome; Prevalence; Urinary Incontinence
PubMed: 33331587
DOI: 10.1590/1806-9282.66.12.1742 -
Endocrine Oct 2021The association between glucocorticoid replacement therapy for adrenal insufficiency (AI) and osteoporosis is unclear. Fracture is a major cause of morbidity in patients... (Meta-Analysis)
Meta-Analysis
PURPOSE
The association between glucocorticoid replacement therapy for adrenal insufficiency (AI) and osteoporosis is unclear. Fracture is a major cause of morbidity in patients with osteoporosis. This study aims to determine if patients on glucocorticoid replacement therapy for AI have an increased rate of fractures compared to the general population.
METHODS
We included all studies with adult patients receiving glucocorticoid replacement therapy for either congenital adrenal hyperplasia (CAH), primary adrenal insufficiency (PAI), or secondary adrenal insufficiency (SAI). Studies without fracture data were excluded, as well as meeting abstracts. Studies with fractures but without a control group were eligible to be included in the systematic review but not in the meta-analysis. The primary outcome was the number of fractures, which was further differentiated into osteoporotic fractures. In addition, the glucocorticoid dose equivalents used were noted whenever possible.
RESULTS
Seventeen studies were included in the systematic review. Seven were used in the meta-analysis of any fracture and six were used for osteoporotic fracture. The reported fracture rate ranged between no fracture to 60.8% in the patient group and no fracture to 43.8% in the control group. The odds ratio (OR) for any fracture was 2.71 (95%CI: 1.36-5.43, P = 0.005) and for osteoporotic fracture 2.76 (95%CI: 2.39-3.19 P < 0.00001), favoring the control group.
CONCLUSIONS
Patients with AI on glucocorticoid replacement therapy have a higher rate of fractures compared to the control population.
Topics: Addison Disease; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adult; Fractures, Bone; Glucocorticoids; Hormone Replacement Therapy; Humans
PubMed: 33846948
DOI: 10.1007/s12020-021-02723-z -
Frontiers in Behavioral Neuroscience 2020Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and...
Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess. Exposure to androgens prenatally might lead to ambiguous genitalia. The fetal brain develops in traditional male direction through a direct action of androgens on the developing nerve cells, or in the traditional female direction in the absence of androgens. This may indicate that sexual development, including sexual orientation, are programmed into our brain structures prenatally. The objective of this study was to perform a systematic review of the literature, investigating sexual orientation in individuals with CAH. The study also aimed at identifying which measures are used to define sexual orientation across studies. The review is based on articles identified through a comprehensive search of the OVIDMedline, PsycINFO, CINAHL, and Web of Science databases published up to May 2019. All peer-reviewed articles investigating sexual orientation in people with CAH were included. Quantitative, qualitative, and mixed methods were considered, as well as self-, parent-, and third-party reports, and no age or language restrictions were enforced on publications. The present review included 30 studies investigating sexual orientation in patients with CAH assigned female at birth (46, XX) ( = 927) or assigned male at birth (46, XY and 46, XX) ( = 274). Results indicate that assigned females at birth (46, XX) with CAH had a greater likelihood to not have an exclusively heterosexual orientation than females from the general population, whereas no assigned males at birth (46, XY or 46, XX) with CAH identified themselves as non-heterosexual. There was a wide diversity in measures used and a preference for unvalidated and self-constructed interviews. Hence, the results need to be interpreted with caution. Methodological weaknesses might have led to non-heterosexual orientation being overestimated or underestimated. The methodological challenges identified by this review should be further investigated in future studies.
PubMed: 32231525
DOI: 10.3389/fnbeh.2020.00038 -
Frontiers in Endocrinology 202211-deoxycorticosterone overproduction due to an adrenal tumor or hyperplasia is a very rare cause of mineralocorticoid-induced hypertension. The objective is to provide...
BACKGROUND AND OBJECTIVES
11-deoxycorticosterone overproduction due to an adrenal tumor or hyperplasia is a very rare cause of mineralocorticoid-induced hypertension. The objective is to provide the most relevant clinical features that clinicians dealing with patients presenting with the hallmarks of hypertension due to 11-deoxycorticosterone-producing adrenal lesions should be aware of.
DESIGN AND METHODS
We report the case of a patient with an 11-deoxycorticosterone-producing adrenal lesion and provide a systematic review of all published cases (PubMed, Web of Science and EMBASE) between 1965 and 2021.
RESULTS
We identified 46 cases (including ours). Most cases (31, 67%) affected women with a mean age of 42.9 ± 15.2 years and presented with high blood pressure and hypokalemia (average of 2.68 ± 0.62 mmol/L). Median (interquartile range) time from onset of first suggestive symptoms to diagnosis was 24 (55) months. Aldosterone levels were low or in the reference range in 98% of the cases when available. 11-deoxycorticosterone levels were a median of 12.5 (18.9) times above the upper limit of the normal reference range reported in each article and overproduction of more than one hormone was seen in 31 (67%). Carcinoma was the most common histological type (21, 45.7%). Median tumor size was 61.5 (60) mm. Malignant lesions were larger, had higher 11-deoxycorticosterone levels and shorter time of evolution at diagnosis compared to benign lesions.
CONCLUSIONS
11-deoxycorticosterone-producing adrenal lesions are very rare, affecting mostly middle-aged women with a primary aldosteronism-like clinical presentation and carcinoma is the most frequent histological diagnosis. Measuring 11-deoxycorticosterone levels, when low aldosterone levels or in the lower limit of the reference range are present in hypertensive patients, is advisable.
SYSTEMATIC REVIEW REGISTRATION
Open Science Framework, 10.17605/OSF.IO/NR7UV.
Topics: Adrenal Gland Neoplasms; Adrenal Hyperplasia, Congenital; Adult; Aldosterone; Carcinoma; Desoxycorticosterone; Female; Humans; Hyperplasia; Hypertension; Male; Middle Aged
PubMed: 35432204
DOI: 10.3389/fendo.2022.846865 -
Hormone Research in Paediatrics 2024There are increased calls to address psychosocial needs among individuals with classical congenital adrenal hyperplasia (CAH). However, cross-cultural disparities exist...
INTRODUCTION
There are increased calls to address psychosocial needs among individuals with classical congenital adrenal hyperplasia (CAH). However, cross-cultural disparities exist in treatment practices and psychosocial outcomes that impact the generalizability of evidence-based recommendations. To date, this disparity has not been quantified. The present scoping review uses a dual approach to contrast rates of CAH diagnosis with CAH psychosocial research rates across countries.
METHODS
Six electronic database searches were conducted for: (1) CAH incidence/birth/prevalence rates; and (2) psychosocial research with affected individuals and their families. Two authors reviewed each abstract for inclusion criteria.
RESULTS
Sixty-eight and 93 full-text articles, respectively, were evaluated for incidence and country. The countries/regions with the highest reported CAH rates are Thailand, Ghana, and India. Those with the greatest portion of psychosocial publications are the USA, Germany, and the UK.
CONCLUSION
A discrepancy exists between those countries with the highest CAH rates and those publishing psychosocial research. Specifically, increased rates of CAH are seen in non-Western countries/regions, whereas most psychosocial research arises out of Western Europe and the USA. Due to cultural differences between these regions, increased global collaboration is needed to both inform psychosocial research and translate findings in ways that are representative worldwide.
Topics: Humans; Adrenal Hyperplasia, Congenital; Cross-Cultural Comparison; Germany; Incidence; Europe
PubMed: 37552959
DOI: 10.1159/000531167 -
Frontiers in Endocrinology 2021Congenital adrenal hyperplasia (CAH) is a group of congenital genetic diseases caused by defective steroidogenesis. Our study aims to systematically analyze the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Congenital adrenal hyperplasia (CAH) is a group of congenital genetic diseases caused by defective steroidogenesis. Our study aims to systematically analyze the screening results for CAH in Chinese newborns.
METHODS
Studies were searched from PubMed, Web of Science, Cochrane library and some Chinese databases up to September, 2020. Meta-analysis was performed after quality assessment and data extraction.
RESULTS
After a review of 2 694 articles, we included 41 studies enrolling 7 853 756 newborns. In our study, we found that the incidence of CAH in China was 0.43‱ [95% confidence intervals(CI), (0.39‱, 0.48‱)], or 1/23 024 [95%CI, (1/25 757,1/20 815)]. 27 studies were included for analysis of the screening positive rate, which gave a rate of 0.66% [95%CI, (0.54%, 0.78%)]. As for the recall rate of positive cases, 17 studies were included and showed that the recall rate reached 86.17% [95%CI, (82.70%, 89.64%)]. Among the CAH patients, the ratio of males to females was 1.92:1 (119:62), and the ratio of salt wasting (SW) to simple virilization (SV) type was 3.25:1 (104:32). The average 17-hydroxyprogesterone (17-OHP) value of CAH was 393.40 ± 291.85 nmol/L (Range 33-1 300 nmol/L); there was no significant difference between male and female patients (437.17 ± 297.27 nmol/L v.s. 322.25 ± 293.04 nmol/L, =0.16), but a significant difference was found between SW and SV patients (483.29 ± 330.07 nmol/L v.s. 73.80 ± 7.83nmol/L, =0.04).
CONCLUSION
We systematically analyzed the current situation of neonatal CAH screening in China, which will deepen our understanding for future CAH screening and early diagnosis.
Topics: Adrenal Hyperplasia, Congenital; China; Female; Humans; Infant, Newborn; Male; Neonatal Screening
PubMed: 33967952
DOI: 10.3389/fendo.2021.624507