disorder of sexual development

AIM: Risk behaviour is typical of adolescence and young adulthood, but the consequences can persist for the rest of life - in all domains - physical, psychological, and social. Challenging situations, stress, as well as feelings of a lack of stimulation in an individual's life are considered to be triggers for risky behaviours. Prevention therefore plays a crucial role. The aim of the study was to analyse the current situation in addictive and risky sexual behaviours in a group of university students...

OBJECTIVE: Childhood maltreatment is indisputably linked to adverse mental health outcomes, including an increased risk to develop posttraumatic stress disorder (PTSD) in adulthood. The role of childhood maltreatment in the context of recovery from a trauma later in adulthood is not well understood. A variable related to both childhood maltreatment and PTSD symptoms, and a potential link between the two, is sleep. The current study aimed to understand how sleep disturbances may play a mechanistic role in the effect of subtypes of childhood maltreatment on PTSD symptom severity in an adult trauma sample...

The continually advancing landscape of neuroscientific and imaging research has broadened our comprehension of sex differences encoded in the human brain, expanding from the hypothalamus and sexual behaviour to encompass the entire brain, including its diverse lobes, structures, and functions. However, less is known about sex differences in the brains of neonates and infants, despite their relevance to various sex-linked diseases that develop early in life. In this review, we provide a synopsis of the literature evidence on sex differences in the brains of neonates and infants at the morphological, structural and network levels...

OBJECTIVE: Musculoskeletal disorders frequently affect postmenopausal women. This study aims to compare muscle disorders between women according to the type of experienced menopause: premature (PM) or normal age of menopause (NAM). METHODS: This was a cross-sectional study conducted in nine Latin American countries in which late postmenopausal women (55 to 70 years) were surveyed with a general questionnaire, the Menopause Rating Scale (MRS: item #4 exploring musculoskeletal discomfort), and the trength, assistance with walking, rising from a chair, climbing stairs, and falling questionnaire (risk of sarcopenia)...

Exposure to potentially traumatic events (PTE) is common and increases an individual's risk of developing post-traumatic stress disorder (PTSD) and other psychiatric disorders. PTEs can be screened with the Life Events Checklist for DSM 5 (LEC-5). However, the psychometric properties of the LEC-5 have never been assessed in Uganda. We aimed to estimate the prevalence of PTEs and evaluate the factor structure of the LEC-5 in a sample of N = 4,479 Ugandan adults between February 2018 -March 2020. We used the phenotyping data from a case-control study (NeuroGAP-Psychosis) in Uganda investigating the genetic and environmental risk factors for psychosis spectrum disorders with 4,479 participants (2,375 cases and 2,104 controls)...

Several aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T2, n = 441), and 2020 (T3, n = 272)...

BACKGROUND: Important gaps exist in our understanding of loneliness and biobehavioral outcomes among sexual minority men (SMM), such as faster HIV disease progression. At the same time, SMM who use methamphetamine are approximately one-third more likely than non-users to develop cardiovascular disease. This study examined associations of loneliness, stimulant use, and cardiovascular risk in SMM with and without HIV. METHOD: Participants were enrolled from August 2020 to February 2022 in a 6-month prospective cohort study...

BACKGROUND: Functional tic disorders are among the least common functional movement disorders, but their prevalence rose during the coronavirus disease 2019 (COVID-19) pandemic. Although female adolescents develop functional neurological disorders at higher rates than males, investigations into sexual orientation and gender identity (SOGI) status of these patients are limited. METHODS: We completed a retrospective, cross-sectional time series examining the incidence of new-onset functional tic disorders in youth presenting to the Massachusetts General Hospital Movement Disorder clinics before and during the COVID-19 pandemic...

Epidemiological studies indicate that about 35% of the world's population periodically suffer from insomnia. Many authors in their studies note sleep disturbances in the clinic of both somatic and mental disorders, often considering sleep disturbances as one of the predictors of these diseases. In psychiatric practice, sleep disorders are most often described in the clinic of depression, which is determined by the general pathophysiological mechanisms of their development due to disruption of the activity of the main neurotransmitter systems of the brain...

BACKGROUND: Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the skin and hair. Variants in the sex-determining region Y-box containing gene 10 (SOXl0) gene may cause congenital deafness and have been demonstrated to be important during the development of WS2. METHODS: Complete clinical data of the proband and her family members (her parents and 2 sisters) was collected and physical examinations were performed in the hospital...

OBJECTIVE: This study examined daily associations between alcohol use, cannabis use, and simultaneous alcohol and cannabis/marijuana (SAM) use with the likelihood of hooking up (uncommitted sexual encounter that may or may not include intercourse). METHOD: We used a longitudinal measurement burst ecological momentary assessment (EMA) design with 3-week EMA bursts with daily measurements repeated quarterly across 12 months. 1,009 (57 % female, Mean age = 20...

Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and a sunset glow fundus development. Furthermore, it is associated with various extraocular findings, such as tinnitus, hearing loss, vertigo, poliosis, and vitiligo (1). VKH is considered to be an autoimmune disease mediated by T-cells targeting melanocyte antigen tyrosinase peptide (2). Moreover, VKH more often occurs in individuals with a genetic predisposition to the disease, including those of Asian and Hispanic heritage (3)...

Mycosis fugnoides (MF) is an indolent cutaneous T-cell lymphoma (CTLC) and is the most common of all cutaneous lymphomas. An increased risk for developing a second primary malignancy in patients with CTCL has been described in several studies, with a range from 1.04 to 2.4 (1-4). Caucasian males are at higher risk for MF development. MF is often diagnosed at ages between 55 and 67 years, and second malignancy usually occurs 5 or 6 years after the diagnosis of MF was established (5). The most common second primary malignancies include non-Hodgkin lymphoma (NHL), Hodgkin lymphoma (HL), lung carcinoma, bladder carcinoma, and melanoma...

Runt-related transcription factor (RUNX1) is a transcription factor closely involved in hematopoiesis. RUNX 1 gene mutation plays an essential pathogenic role in the initiation and development of hematological tumors, especially in acute myeloid leukemia. Recent studies have shown that RUNX1 is also involved in the regulation of bone development and the pathological progression of bone-related diseases. RUNX1 promotes the differentiation of mesenchymal stem cells into chondrocytes and osteoblasts and modulates the maturation and extracellular matrix formation of chondrocytes...

This study aimed to explore the predictors of posttraumatic stress disorder (PTSD) in women who have recently experienced sexual assault, by examining psychological and neurophysiological factors using a prospective design with resting-state electroencephalogram (EEG) functional connectivity. The study enrolled 33 women who had been recently traumatized by sexual assault and conducted assessments within a month of the trauma. These survivors were evaluated for PTSD three months later and were classified into two groups: PTSD positive (n = 12) and PTSD negative (n = 21)...

BACKGROUND: Adverse childhood experiences (ACEs) are known determinants of negative health outcomes. Sexual and gender minority (SGM) individuals have higher ACE scores than non-SGM individuals. The SGM-ACE scale was developed to better assess this population but is not yet validated in SGM subgroups. AIMS: This study aims to validate the sexual and gender minority adverse childhood experiences (SGM-ACE) scale among sexual minority men (SMM) and sexual minority women (SMW), while testing measurement invariance across both groups...

Previous research has found some peculiarities in sexual functioning of adults with attention deficit/hyperactivity disorder (ADHD). Using a set of questionnaires that had to be answered online, we assessed the prevalence of paraphilic fantasies and behaviors in a sample of 160 adults with ADHD in comparison to 75 adults without ADHD and evaluated the association between paraphilias and hypersexuality in the ADHD group. Both groups reported high rates of paraphilic fantasies and behaviors. ADHD individuals were more likely to report about very sexually arousing paraphilic fantasies (ADHD: 58...

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by haploinsufficiency of transcription factor 4 (TCF4). In this work, we focused on the cerebral cortex and investigated in detail the progenitor cell dynamics and the outcome of neurogenesis in a PTHS mouse model. Labeling and quantification of progenitors and newly generated neurons at various time points during embryonic development revealed alterations affecting the dynamic of cortical progenitors since the earliest stages of cortex formation in PTHS mice...

Thyroid hormones are crucial for brain development and their deficiency during fetal and postnatal periods can lead to mood and cognitive disorders. We aimed to examine the consequences of thyroid hormone deficiency on anxiety-related behaviors and protein expression of hippocampal glutamate transporters in congenital hypothyroid male offspring rats. Possible beneficial effects of treadmill exercise have also been examined. Congenital hypothyroidism was induced by adding propylthiouracil (PTU) to drinking water of pregnant Wistar rats from gestational day 6 until the end of the weaning period (postnatal day 28)...

BACKGROUND: The decision regarding sex rearing in patients with Disorders of Sex Development (DSD) is heavily connected to the shared decision-making model within multidisciplinary team. Some of these patients might develop gender dysphoria, when they become adults. We have aimed to evaluate the long-term outcomes of patients with XY DSD who underwent female gender assignment at our center. METHODS: We have conducted a retrospective study of all 46, XY DSD patients who underwent female assignment in our institution over the last 30 years...