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Advances in Pediatrics Aug 2024Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition caused by various enzyme deficiencies that result in disruptions of pathways of adrenal... (Review)
Review
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition caused by various enzyme deficiencies that result in disruptions of pathways of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form of CAH and has a variable phenotype which ranges a spectrum, from the most severe salt-wasting type to the simple-virilizing type and the least severe nonclassical form. Patients with CAH are at risk for various comorbidities due to the underlying adrenal hormone production imbalance as well as the treatment of the condition, which typically includes supraphysiologic glucocorticoid dosing. Children and adults require frequent monitoring and careful medication dosing adjustment. However, there are multiple novel therapies on the horizon that offer promise to patients with CAH in optimizing their treatment regimens and reducing the risk of comorbidities.
Topics: Humans; Adrenal Hyperplasia, Congenital; Glucocorticoids; Child
PubMed: 38944479
DOI: 10.1016/j.yapd.2024.02.006 -
Aging & Mental Health Jun 2024Women are twice as likely to be diagnosed with major depressive disorder as men. Yet suicide rates are four times higher in men than women, increasing to six times when...
OBJECTIVES
Women are twice as likely to be diagnosed with major depressive disorder as men. Yet suicide rates are four times higher in men than women, increasing to six times when comparing older men to older women. Investigators have begun researching if depression presents differently in individuals who adhere to masculine norms, leading to the conceptualization of masculine depression. Despite validity evidence for the Male Depression Risk Scale-22 (MDRS-22) in mixed-age samples, few studies have investigated the possibility of age-related differences in masculine depression. The present study aimed to test for age invariance of the MDRS-22.
METHOD
Age invariance for the MDRS-22 was tested a multi-group confirmatory factor analysis with groups of younger (18-64 years) and older (65+ years) males ( = 469).
RESULTS
Age invariance for the MDRS-22 was not established, ΔX = 451.47, Δd = 16, < 0.001.
CONCLUSION
Results of the study indicate that masculine depression may present differently between younger and older men. To fully understand the construct of masculine depression, it is important to investigate how symptoms may present in individuals of all ages. Overall, the study highlights the importance of investigating how masculine depression may present differently in older men.
PubMed: 38940683
DOI: 10.1080/13607863.2024.2372706 -
European Journal of Endocrinology Jun 2024Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46, XY disorders caused by androgen receptor (AR) gene...
CONTEXT
Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46, XY disorders caused by androgen receptor (AR) gene variants. This large-sample study aimed to correlate the genotypes and phenotypes to the fertility of individuals.
METHODS
This was a cohort study that analyzed genetic and clinical characteristics of patients with AIS from a single center in China.
RESULTS
The 117 patients were divided into 53 with complete AIS (CAIS) and 64 with partial AIS (PAIS). At their first visit the median age was 1.83 years (0.92-4.17) and the EMS was 3.0 (2.0-6.0). At the last follow-up, 92% (49/53) of patients with CAIS maintained their female gender, and 94% (60/64) of patients with PAIS were raised as males. No gender anxiety was observed in this study. Eighty-eight AR variants were identified, with 31 (35%) being unreported. Moreover, 24% (21/88) occurred more than once. The variants that appeared most frequently were located at amino acid 841, including p.R841H(n=5) and p.R841C(n=2). Variants p.N706S, p.R856H, and p.A871V were each observed 4 times. In terms of inheritance, 83% of patients with parental verification inherited variants from their mothers. We also observed that the variants from one case were inherited from his maternal grandfather who had hypospadias.
CONCLUSION
Most children with PAIS were raised as males. The abundance of maternally inheritable variants and the presence of case of preserved fertility indicate the fertility potential in patients with AIS. Hence, we recommend a careful evaluation of gonadectomy when fertility preservation is being considered.
PubMed: 38938059
DOI: 10.1093/ejendo/lvae082 -
Indian Journal of Public Health Oct 2023Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinological disorders affecting 6%-8% of women in reproductive years. An early liberal...
BACKGROUND
Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinological disorders affecting 6%-8% of women in reproductive years. An early liberal PCOS screening appears to be a cost-effective strategy, benefiting earlier diagnosis and intervention.
OBJECTIVES
The objectives are to measure the prevalence of PCOS and factors associated with PCOS among young girl students of a University in Central Gujarat.
MATERIALS AND METHODS
All consenting girl medical students enrolled in MBBS curriculum during 2013-2017 were given a self-administered questionnaire (for signs and symptoms of PCOS), taking due prior permissions; during January 2018-June 2019. Using Rotterdam (2006) criteria, those who were screened for PCOS were subjected to abdominal ultrasonography (USG) and if required, laboratory investigations (random blood sugar, thyroid-stimulating hormone, and free testosterone). The proportion of young women having PCOS as per the Rotterdam and European Society for Human Reproduction and Embryology (EHSRE) Criteria are reported.
RESULTS
The study enrolled 308 girl medical students. More than one-tenth of the study participants (11.7%, 36/308) had confirmed PCOS (Rotterdam Criteria). As per the EHSRE criteria, 24/36 had classic PCOS, 11/36 had ovulatory phenotype, and 01/36 had the non-hyperandrogenic phenotype PCOS. USG was required in 123/308 (39%); of which 91 consented and 16/91 (18%) had conclusive PCOS. Twenty-three girls required laboratory investigations, of which two had abnormal values suggestive of PCOS. Irregular menses and hirsutism were significantly associated with the PCOS (P < 0.05).
CONCLUSION
The proportion of young medical students with PCOS was 12%. Irregular menses and hirsutism were significantly associated with PCOS.
Topics: Humans; Polycystic Ovary Syndrome; Female; Cross-Sectional Studies; India; Adolescent; Prevalence; Universities; Young Adult; Students, Medical; Hirsutism
PubMed: 38934823
DOI: 10.4103/ijph.ijph_1508_22 -
Frontiers in Psychology 2024To explore the psychological personality characteristics of transgender groups and to determine whether these characteristics differ according to sociodemographic...
OBJECTIVE
To explore the psychological personality characteristics of transgender groups and to determine whether these characteristics differ according to sociodemographic factors.
METHODS
This cross-sectional study was conducted between January 2021 and April 2023 at a psychosexual outpatient clinic in a psychiatric hospital in Beijing, China. In total, 481 individuals were included in this study, and demographic information was collected using a self-administered general questionnaire. Psychological personality traits were assessed using the Minnesota Multiphasic Personality Inventory (MMPI).
RESULTS
The mean scores of the assigned male at birth (AMAB) group were significantly higher than those of the male controls for all 10 clinical factors of the MMPI ( < 0.01 or < 0.001). The scores for both the Masculinity-femininity (Mf) and Depression (D) factors in the AMABs group exceeded the clinical threshold ( > 60) and were the highest and second-highest scores on the entire scale, respectively. Individuals assigned female at birth (AFAB) had significantly higher scores than female controls for Hysteria (Hy), Psychopathic Deviate (Pd), and Hypomania (Ma) ( < 0.05, < 0.01, and < 0.001, respectively). There were significant differences in the rates of abnormal values for the various factors of the MMPI ( > 60) according to gender, age, and education ( < 0.05, < 0.01, and < 0.001, respectively). Compared to AFABs, AMABs had higher rates of abnormal scores ( > 60) on the Hypochondriasis (Hs), D, Hy, Mf, Paranoia (Pa), Psychasthenia (Pt), Schizophrenia (Sc), and Social Introversion (Si) scales ( < 0.05, < 0.01, and < 0.001, respectively). Second, the transgender group aged ≤25 years had higher rates of abnormal scores ( > 60) on the Hs, D, Hy, Pd, Pa, Pt, Sc, and Ma scales ( < 0.05, < 0.01, and < 0.001, respectively). Finally, outliers ( > 60) for the Hs, D, Hy, Pd, Pa, Pt, Ma, and Si factors were more prevalent among those with a primary to high school level of education ( < 0.05, < 0.01, and < 0.001, respectively).
CONCLUSION
Assigned male at births may have a variety of psychological vulnerabilities, and there is a need to focus especially on those with a primary to high school level of education, those aged ≤25 years, and transgender females.
PubMed: 38933582
DOI: 10.3389/fpsyg.2024.1416011 -
Brain Sciences Jun 2024Although previous behavioral studies have associated reactive aggression (RA) and proactive aggression (PA) with traditional masculinity, further investigation is needed...
Although previous behavioral studies have associated reactive aggression (RA) and proactive aggression (PA) with traditional masculinity, further investigation is needed into the traditional masculinity-linked neuroanatomical characteristics of RA and PA. This study analyzed the traditional masculinity-by-aggression interaction in 705 participants (350 men) by measuring grey matter volume (GMV). We have expanded on previous studies and found that traditional masculinity was not associated with RA and PA when not controlled for traditional femininity. However, the association appeared when controlling for it. Furthermore, we found significant traditional masculinity-by-RA interactions on the GMV in the bilateral superior frontal gyrus, a region known to be involved in cognitive control. When traditional masculinity scores were 1 standard deviation above the mean, there was a positive correlation between RA and the GMV in the bilateral superior frontal gyrus. Conversely, when traditional masculinity scores were 1 standard deviation below the mean, there was a negative correlation between RA and the GMV in the region. However, no traditional masculinity-linked neuroanatomical characteristics of PA were found. The results indicated that individuals with high/low traditional masculinity perceived RA as a different outcome (gain or loss) of self-control. The results supported an opportunity to develop prevention or intervention strategies for RA.
PubMed: 38928605
DOI: 10.3390/brainsci14060605 -
Annals of the Academy of Medicine,... Dec 2023Two decades after the Rotterdam 2003 consensus workshop, there have been considerable advances in elucidating the pathophysiology and epidemiology of polycystic ovary... (Review)
Review
INTRODUCTION
Two decades after the Rotterdam 2003 consensus workshop, there have been considerable advances in elucidating the pathophysiology and epidemiology of polycystic ovary syndrome (PCOS). This has prompted the re-examination of the features that characterise this common condition. Current definitions have led to great heterogeneity in the prevalence of PCOS and have contributed to inconsistent treatment protocols and assessment of therapeutic outcomes. Diagnosis is further complicated by the lack of universal agreement on threshold cut-offs for ovarian dysfunction and ethnic differences in hirsutism; both of which are key features in the definitions that are commonly used currently. These challenges often result in dissatisfaction with medical care among PCOS patients and their physicians.
METHOD
Our factor analysis mathematically identified anti-Mullerian hormone (AMH), associated polycystic ovarian morphology (PCOM) and serum testosterone as the only significant cluster associated with menstrual cycle length variability.
RESULTS AND CONCLUSION
As such, we propose a simplified criteria wherein the presence of at least 2 of the 3 features below would be sufficient to define PCOS: (1) chronic oligo-ovulation or anovulation as indicated by oligomenorrhea (cycle lengths >35 days) or amenorrhea; (2) PCOM: raised AMH ≥37.0 pmol/L instead of transvaginal ultrasound assessment of ovaries; and (3) Androgen excess, or raised serum androgens above the laboratory reference for women. Further studies are required to examine whether the proposed criteria would reduce diagnostic confusion and improve care and outcomes, especially among patients of East Asian ethnicities.
Topics: Humans; Polycystic Ovary Syndrome; Female; Testosterone; Phenotype; Anti-Mullerian Hormone; Asian People; Hirsutism; Oligomenorrhea; Anovulation; Factor Analysis, Statistical; Amenorrhea; Menstrual Cycle; Ovary; East Asian People
PubMed: 38920160
DOI: 10.47102/annals-acadmedsg.202369 -
Reproductive Health Jun 2024Addressing attitudes is central to achieving sexual and reproductive health and rights (SRHR) and Agenda 2030. We aimed to develop a comprehensive index to measure...
BACKGROUND
Addressing attitudes is central to achieving sexual and reproductive health and rights (SRHR) and Agenda 2030. We aimed to develop a comprehensive index to measure attitudinal support for SRHR, expanding opportunities for global trend analyses and tailored interventions.
METHODS
We designed a new module capturing attitudes towards different dimensions of SRHR, collected via the nationally representative World Values Survey in Ethiopia, Kenya, and Zimbabwe during 2020-2021 (n = 3,711). We used exploratory factor analysis of 58 items to identify sub-scales and an overall index. Adjusted regression models were used to evaluate the index according to sociodemographic characteristics, stratified by country and sex.
RESULTS
A 23-item, five-factor solution was identified and used to construct sub-indices reflecting support for: (1) sexual and reproductive rights, (2) neighborhood sexual safety, (3) gender-equitable relationships, (4) equitable masculinity norms, and (5) SRHR interventions. These five sub-indices performed well across countries and socioeconomic subgroups and were combined into a comprehensive "SRHR Support Index", standardized on a 1-100 scale (mean = 39.19, SD = 15.27, Cronbach's alpha = 0.80) with higher values indicating more support for SRHR. Mean values were highest in Kenya (45.48, SD = 16.78) followed by Ethiopia (40.2, SD = 13.63), and lowest in Zimbabwe (32.65, SD = 13.77), with no differences by sex. Higher education and being single were associated with more support, except in Ethiopia. Younger age and urban residence correlated with more support among males only.
CONCLUSION
The SRHR Support Index has the potential to broaden SRHR attitude research from a comprehensive perspective - addressing the need for a common measure to track progress over time.
Topics: Humans; Male; Female; Reproductive Health; Adult; Sexual Health; Reproductive Rights; Adolescent; Young Adult; Africa South of the Sahara; Middle Aged; Surveys and Questionnaires; Sexual Behavior
PubMed: 38918832
DOI: 10.1186/s12978-024-01820-2 -
Archives of Sexual Behavior Jun 2024Guided by the dynamic model of masculinity and men's psychopathology, the current study aimed to explore the mediating role of masculine discrepancy stress and each of...
Guided by the dynamic model of masculinity and men's psychopathology, the current study aimed to explore the mediating role of masculine discrepancy stress and each of the muscle dysmorphia dimensions (drive for size, appearance intolerance, and functional impairments) in the association between masculine gender role discrepancy and masculine depression. For the present study, 936 Israeli men completed a structured self-report questionnaire. Masculine discrepancy stress and some of the muscle dysmorphia dimensions were found to partially mediate the association between masculine gender role discrepancy and masculine depression. The findings demonstrate how the internalization of social gender expectations and men's gender role discrepancy is reflected in the gap between perception of self and the typical man, which is eventually related to mental health outcomes. In turn, men attempt to mitigate the stress through what they perceive as masculine, reflecting muscle dysmorphia: drive for size, appearance intolerance, and functional impairments, which in turn predict masculine depression. Therefore, mental and physical health professionals are advised to be aware of these mechanisms, in order to recognize the negative mental health outcomes arising from traditional societal gender role expectations and provide specific solutions for them.
PubMed: 38918328
DOI: 10.1007/s10508-024-02931-4 -
Indian Journal of Endocrinology and... 2024Assessment of genitalia is an important part of the neonatal examination. Regional, racial, and ethnic variations in phallic length have been documented. Clitoral...
INTRODUCTION
Assessment of genitalia is an important part of the neonatal examination. Regional, racial, and ethnic variations in phallic length have been documented. Clitoral dimensions may also show similar variations. Normal values for neonatal clitoral measurements may help the pediatrician/neonatologist to accurately diagnose clitoromegaly and underlying etiology to guide appropriate investigations. Data on clitoral measurements is limited with only one study from India (Kolkata). Hence we aimed in this study to generate south Indian data on neonatal clitoral dimensions, anogenital distance, and anogenital ratio. Two hundred and fifty two hemodynamically stable term female neonates without ambiguous genitalia/vulval masses born in a community hospital. Hospital-based cross-sectional study. 1. To measure clitoral dimensions, anogenital distance, and anogenital ratio in female neonates. 2. To correlate clitoral dimensions, anogenital distance, and ratio with anthropometric measurements, gestational age, and maternal comorbidities.
METHODS
Measurements were recorded using a digital vernier caliper, under strict aseptic precautions with labia majora gently separated and the baby held in a frog-leg position. Clitoral length, width, and anogenital distance were measured and anogenital ratio and clitoral index were calculated.
RESULTS
In term neonates, the mean ± SD of clitoral length (CL), clitoral width (CW), anogenital ratio (AGR) were 6.34 ± 1.75 mm, 6.39 ± 1.27 mm and 0.39 ± 0.05, respectively. The 3 and 97 centiles for mean clitoral length were 3.55 and 9.93 mm, for mean clitoral width were 3.37 and 8.35 mm, and for AGR were 0.28 and 0.48, respectively. These clitoral dimensions in south Indian neonates were higher than those from East India (Kolkata), lower than Nigerian babies, and similar to Israeli neonates. Mean CL and CW had no statistical correlation with birth weight, gestational age, head circumference, or length in term neonates. A significant correlation was noted between pregnancy-induced hypertension and mean clitoral width, and between gestational diabetes and AGR.
CONCLUSION
Normative values for clitoral dimensions (length and width) and AGR for south Indian term female neonates have been established. 97 centiles of 9.93 mm (CL) and 8.35 mm (CW) and 0.48 mm (AGR) may be used as practical cut-offs to diagnose clitoromegaly and virilization. Clitoral measurements had no statistical correlation with birth weight, gestational age, or anthropometry. Clitoral measurements exhibit ethnic and racial differences, thus emphasizing the importance of regional cut-offs and need for more studies from different parts of India on CL.
PubMed: 38911105
DOI: 10.4103/ijem.ijem_145_23