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Frontiers in Endocrinology 2024The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or... (Review)
Review
46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.
The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.
Topics: Humans; Adrenal Hyperplasia, Congenital; Puberty; Hormone Replacement Therapy; Fertility; Female; Male; Disorders of Sex Development; Sexual Development
PubMed: 38841305
DOI: 10.3389/fendo.2024.1402579 -
Human Vaccines & Immunotherapeutics Dec 2024The contribution of vaccination to global health, especially in low-middle-income countries is one of the achievements in global governance of modern medicine, averting...
The contribution of vaccination to global health, especially in low-middle-income countries is one of the achievements in global governance of modern medicine, averting 2-3 million child deaths annually. However, in Nigeria, vaccine-preventable-diseases still account for one-in-eight child deaths before their fifth-year birthday. Nigeria is one of the ten countries where 4.3 million children under five are without complete immunization. Therefore, the goal of this contribution is to shed light on the reasons to set a foundation for future interventions. To conduct focus groups, a simplified quota sampling approach was used to select mothers of children 0-12 months old in four geographical clusters of Nigeria. An interview guide developed from the 5C psychological antecedence model was used (assessing confidence, complacency, calculation, constraints, collective responsibility); two concepts were added that had proved meaningful in previous work (religion and masculinity). The data were analyzed using a meta-aggregation approach. The sample was relatively positive toward vaccination. Still, mothers reported low trust in vaccine safety and the healthcare system (confidence). Yet, they had great interest in seeking additional information (calculation), difficulties in prioritizing vaccination over other equally competing priorities (constraints) and were aware that vaccination translates into overall community wellbeing (collective responsibility). They had a bias toward God as ultimate giver of good health (religion) and their husbands played a dominant role in vaccination decision-making (masculinity). Mothers perceived their children vulnerable to disease outbreaks, hence, motivated vaccination (complacency). The study provided a useful qualitative tool for understanding mothers' vaccination decision-making in low resources settings.
Topics: Humans; Nigeria; Mothers; Female; Infant; Vaccination; Decision Making; Adult; Infant, Newborn; Qualitative Research; Health Knowledge, Attitudes, Practice; Young Adult; Focus Groups; Male; Patient Acceptance of Health Care; Vaccines
PubMed: 38839600
DOI: 10.1080/21645515.2024.2355709 -
Jornal de Pediatria May 2024It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a...
OBJECTIVE
It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment.
METHODS
The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up.
RESULTS
A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia.
CONCLUSIONS
Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.
PubMed: 38823786
DOI: 10.1016/j.jped.2024.05.001 -
American Journal of Men's Health 2024In this study, we formally examine the association between penis size dissatisfaction and gun ownership in America. The primary hypothesis, derived from the psychosexual...
In this study, we formally examine the association between penis size dissatisfaction and gun ownership in America. The primary hypothesis, derived from the psychosexual theory of gun ownership, asserts that men who are more dissatisfied with the size of their penises will be more likely to personally own guns. To test this hypothesis, we used data collected from the 2023 () survey, a national probability sample of 1,840 men, and regression analyses to model personal gun ownership as a function of penis size dissatisfaction, experiences with penis enlargement, social desirability, masculinity, body mass, mental health, and a range of sociodemographic characteristics. We find that men who are dissatisfied with the size of their penises are likely to personally own guns across outcomes, including any gun ownership, military-style rifle ownership, and total number of guns owned. The inverse association between penis size dissatisfaction and gun ownership is linear; however, the association is weakest among men ages 60 and older. With these findings in mind, we failed to observe any differences in personal gun ownership between men who have and have not attempted penis enlargement. To our knowledge, this is the first study to formally examine the association between penis size and personal gun ownership in America. Our findings fail to support the psychosexual theory of gun ownership. Alternative theories are posited for the apparent inverse association between penis size dissatisfaction and personal gun ownership, including higher levels of testosterone and constructionist explanations.
Topics: Humans; Male; Middle Aged; Adult; United States; Firearms; Penis; Masculinity; Ownership; Young Adult; Surveys and Questionnaires; Body Dissatisfaction; Adolescent; Aged
PubMed: 38819006
DOI: 10.1177/15579883241255830 -
Journal of Hand Surgery Global Online May 2024The patient is a 17-year-old right-hand-dominant girl with a history of virilizing congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase enzyme deficiency....
The patient is a 17-year-old right-hand-dominant girl with a history of virilizing congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase enzyme deficiency. Her CAH had been managed with supplemental exogenous steroids, but unfortunately, she had been noncompliant for many years. She subsequently presented with severe progressive numbness and tingling in the bilateral upper extremities that were refractory to conservative management. Electromyography/nerve conduction studies confirmed bilateral carpal tunnel syndrome (CTS) with the right being more severe than the left, and she underwent uncomplicated carpal tunnel releases that relieved her symptoms immediately and completely. Carpal tunnel syndrome secondary to CAH may be associated with the effects of elevated sex hormones within the CTS, leading to inflammation and median nerve entrapment. Moreover, hyperandrogenism is associated with elevated acute phase reactants and inflammatory cytokines, contributing to progressive median neuropathy. To the author's knowledge, there have been no reported cases of severe pediatric CTS with associated hyperandrogenism from CAH.
PubMed: 38817764
DOI: 10.1016/j.jhsg.2024.03.007 -
JCEM Case Reports Jun 2024A mutation in the steroidogenic acute regulatory protein () gene, which encodes a protein that plays a crucial role in steroid hormone synthesis, causes a severe form of...
A mutation in the steroidogenic acute regulatory protein () gene, which encodes a protein that plays a crucial role in steroid hormone synthesis, causes a severe form of congenital adrenal hyperplasia (CAH) known as lipoid CAH (LCAH). LCAH presents with primary adrenal insufficiency (PAI) as well as atypical genitalia. Individuals with LCAH require adrenal steroid hormone supplements for survival. Masculinization in males with deficiency varies from incomplete to normal virilization. Radiological examinations reveal enlarged and lipid-laden adrenals. A 10-year-old boy born of second-degree consanguinity presented with weight gain and hyperpigmentation for 1 year. He was diagnosed with PAI at age 7 months and treated with hydrocortisone and fludrocortisone. Dynamic adrenal gland testing revealed undetectable hormone reserves. Imaging detected hypoplastic adrenals and a small testis with testicular adrenal rests (TART). Genetic analysis indicated a novel homozygous pathogenic variant of in exon 7, c.814C > G(pArg272Gly) associated with LCAH (OMIM No. 201710). Testing revealed that asymptomatic family members and relatives were heterozygotes for the variant. The patient was diagnosed with nonclassic LCAH with hypoplastic adrenals and TART. Adequate hormone supplementation resulted in TART regression. This genetic variation is reported for the first time.
PubMed: 38803511
DOI: 10.1210/jcemcr/luae089 -
Scientific Reports May 2024Primate faces provide information about a range of variant and invariant traits, including some that are relevant for mate choice. For example, faces of males may convey...
Primate faces provide information about a range of variant and invariant traits, including some that are relevant for mate choice. For example, faces of males may convey information about their health or genetic quality through symmetry or facial masculinity. Because perceiving and processing such information may have bearing on the reproductive success of an individual, cognitive systems are expected to be sensitive to facial cues of mate quality. However, few studies have investigated this topic in non-human primate species. Orang-utans are an interesting species to test mate-relevant cognitive biases, because they are characterised by male bimaturism: some adult males are fully developed and bear conspicuous flanges on the side of their face, while other males look relatively similar to females. Here, we describe two non-invasive computerised experiments with Bornean orang-utans (Pongo pygmaeus), testing (i) immediate attention towards large flanges and symmetrical faces using a dot-probe task (N = 3 individuals; 2F) and (ii) choice bias for pictures of flanged males over unflanged males using a preference test (N = 6 individuals; 4F). In contrast with our expectations, we found no immediate attentional bias towards either large flanges or symmetrical faces. In addition, individuals did not show a choice bias for stimuli of flanged males. We did find exploratory evidence for a colour bias and energy efficiency trade-offs in the preference task. We discuss our null results and exploratory results in the context of the evolutionary history of Bornean orang-utans, and provide suggestions for a more biocentric approach to the study of orang-utan cognition.
Topics: Animals; Male; Pongo pygmaeus; Female; Attentional Bias; Sex Characteristics; Choice Behavior; Sexual Behavior, Animal; Mating Preference, Animal
PubMed: 38802458
DOI: 10.1038/s41598-024-62187-9 -
American Journal of Men's Health 2024Although several studies have reported an inverse association between masculine discrepancy stress-the perceived failure to conform to internalized normative...
Although several studies have reported an inverse association between masculine discrepancy stress-the perceived failure to conform to internalized normative expectations of masculinity-and well-being, researchers have yet to consider the potential moderating or buffering role of religiosity. Regression analyses of data collected from a national sample of men ( = 2,018), the 2023 survey indicated that masculine discrepancy stress was consistently associated with lower levels of subjective well-being, including poorer self-reported mental health, less happiness, and lower life satisfaction. We also observed that these associations were attenuated or buffered among men who reported regular religious attendance and greater religious salience. Taken together, our findings suggest that different expressions of religiosity may help to alleviate the psychological consequences of masculine discrepancy stress. More research is needed to incorporate dimensions of religion and spirituality into studies of gender identity and subjective well-being.
Topics: Humans; Male; Masculinity; Adult; Middle Aged; Stress, Psychological; Personal Satisfaction; Young Adult; Surveys and Questionnaires; United States; Aged; Mental Health; Spirituality; Subjective Stress
PubMed: 38794958
DOI: 10.1177/15579883241255187 -
American Journal of Men's Health 2024Being a man has been recognized as a salient risk factor for suicide. Adopting uncompromised masculine perceptions (i.e., conforming to the masculine gender role norms)...
Being a man has been recognized as a salient risk factor for suicide. Adopting uncompromised masculine perceptions (i.e., conforming to the masculine gender role norms) may restrict emotional expressiveness in men, which, in turn, may contribute to depression and somatization symptoms. We examined the moderating role of psychological flexibility and alexithymia in the relationship of masculinity with depression and somatization symptoms. A sample of 119 men completed measures of masculinity, alexithymia (difficulty identifying and delivering subjective feelings), psychological flexibility, depression, and somatization symptoms in a cross-sectional design study. Psychological flexibility levels moderated the relationship between masculinity and depression symptoms: Masculinity contributed as positively associated with depression symptoms when psychological flexibility was low, but no such association was found at moderate or high levels of psychological flexibility. As a cognitive factor promoting adaptive emotional regulation, psychological flexibility might reduce depression symptoms among inflexible masculine men. Clinical implications relate to diagnosing at-risk subgroups and their treatment.
Topics: Humans; Male; Masculinity; Israel; Adult; Cross-Sectional Studies; Depression; Young Adult; Middle Aged; Adaptation, Psychological; Surveys and Questionnaires; Affective Symptoms
PubMed: 38794957
DOI: 10.1177/15579883241253820 -
Medicina (Kaunas, Lithuania) May 2024The increase in practices related to enhancing penile size can be attributed to the belief that an improved genital appearance contributes to a man's virility, coupled... (Review)
Review
The increase in practices related to enhancing penile size can be attributed to the belief that an improved genital appearance contributes to a man's virility, coupled with an altered self-perception of his body. It is crucial to tailor interventions to meet the genuine needs of patients by thoroughly assessing their history, psychological state, and potential surgical benefits, all while considering the associated risks of complications. This systematic review aims to summarize the available evidence on outcomes, complications, and quality of life after penile augmentation surgery, examining both minimally invasive and more radical techniques. A search of the PubMed and Scopus databases, focusing on English-language papers published in the last 15 years, was performed in December 2023. Papers discussing surgery in animal models and case reports were excluded from the present study unless further evaluated in a follow-up case series. The primary outcomes were changes in penile dimensions, specifically in terms of length and girth, as well as the incidence of surgical complications and the impact on quality of life. A total of 1670 articles were retrieved from the search and 46 were included for analysis. Procedures for penile length perceived enhancements include lipoplasty, skin reconstruction plasty, V-Y and Z plasty, flap reconstruction, scrotoplasty, ventral phalloplasty, and suspensory ligament release; techniques for increasing corporal penile length include penile disassembly, total phalloplasty, and sliding elongation. Finally, penile girth enhancement may be performed using soft tissue fillers, grafting procedures, biodegradable scaffolds, and Penuma. In conclusion, while penile augmentation surgeries offer potential solutions for individuals concerned about genital size, the risks and complexities need to be accounted for.
Topics: Humans; Quality of Life; Male; Penis; Postoperative Complications; Treatment Outcome; Plastic Surgery Procedures
PubMed: 38792941
DOI: 10.3390/medicina60050758