Secondary Sexual Characteristics Research Articles

Magnetic resonance imaging for proper diagnosis and management of Müllerian duct anomalies

The objective of this study was to highlight the importance of magnetic resonance imaging (MRI) in achieving an accurate early diagnosis and facilitating precise treatment planning for Müllerian duct anomalies (MDAs). To discuss this topic, we present two case reports.Case 1: a 19-year-old nulliparous female presented with primary amenorrhea and normal secondary sexual characteristics. Vaginal inspection revealed a shortened vagina, but no discernible cervix. Transvaginal ultrasound (US) subsequently showed an oval structure initially thought to be the cervix, but no visible uterus or ovaries. MRI eventually confirmed a diagnosis of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, with an absence of a uterus, cervix and upper section of the vagina, and the presence of a median fibrous remnant. Case 2: a 24-year-old nulliparous female presented with severe dysmenorrhea and uterine tenderness upon physical examination. Initial US evaluation pointed to bilateral hydrosalpinx. Pelvic MRI finally confirmed a left unicornuate uterus with a rudimentary non-communicating right cavity and associated hematosalpinx. The patient underwent surgical removal of the right rudimentary horn and fallopian tube.These cases demonstrate how MRI yields a much more detailed evaluation of the anatomy of the pelvic region. Early diagnosis and appropriate treatment can significantly reduce the risk of complications and enhance outcomes.

No immediate attentional bias towards or choice bias for male secondary sexual characteristics in Bornean orang-utans (Pongo pygmaeus).

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 oforang-utan cognition.

Mayer–Rokitansky–Kuster–Hauser Syndrome Type II with Mullerian Duct Aplasia–Renal Dysplasia–Cervical Somite Anomalies Association: A Case Report and Review of Literature

ABSTRACT Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome, also known as Mullerian aplasia/Mullerian agenesis, is characterized by the absence of the uterus and upper two-thirds of the vagina in women who have normal ovarian function and secondary sexual characteristics. The syndrome occurs at a rate of approximately 1 in every 4500–5000 females. Its primary clinical presentation is primary amenorrhea. MRKH syndrome varies in severity and is classified into two types: type I, which is isolated, and type II, involving abnormalities in other organ systems, particularly the kidneys and skeleton. Due to the nature of this condition, individuals with MRKH syndrome may experience significant psychological challenges, highlighting the importance of counseling. This case report describes the diagnosis of type II MRKH syndrome in a 14-year-old girl with primary amenorrhea, also associated with Mullerian duct aplasia–renal dysplasia–cervical somite anomalies.

Features of the biological development of schoolchildren in the Moscow region with different levels of health

BACKGROUND: The study of the health status of children and the dynamics of the physical and biological development of schoolchildren remains an urgent scientific issue both in our country and worldwide. The lifestyles of modern children and adolescents change based on regional standards for physical and biological development. AIM: To analyze the dynamics of puberty in modern schoolchildren depending on their health status and update biological development standards of schoolchildren in the Moscow region. MATERIALS AND METHODS: In the 2020s, an observational single-center cross-sectional study of the health status and physical and biological development of schoolchildren aged 12–16 years was performed in Moscow. Physical and biological development was assessed in each age and sex group according to standard methods using certified anthropometric instruments to measure height and weight. RESULTS: The study involved 508 schoolchildren with different levels of health, who were divided into groups 1 (n=107, 21.1%), 2 (n=208, 58.7%), and 3 (n=103, 20.2%). Diseases of the eye and its adnexal apparatus (24%) were prevalent functional abnormalities, and musculoskeletal system and connective tissue diseases were found in 20% of the sample. The level of biological development in groups 1 and 2 in comparison with group 3 did not differ significantly (р 0.05); however, later development of secondary sexual characteristics tended to occur in schoolchildren with chronic diseases. Significant (р=0.038) differences in the age at menarche in girls were found depending on the level of physical development. Thus, when developing standards for biological development, data of schoolchildren in groups 1 and 2 must be considered. CONCLUSION: The results of this study clearly demonstrated the prevalence of functional abnormalities and chronic diseases of various nosologies among schoolchildren in the Moscow region. The results of the study provided an update on the standards for the biological development of schoolchildren in Moscow.

A case of Mayer-Rokitansky-Kuster- Hauser syndrome type I

Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.

Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia

Objective: To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies. Methods: This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory results, gene variations, and outcomes was collected. The follow-ups were done through WeChat, telephone, or clinic visits every 3 to 6 months. Results: Among the 55 patients, 31 were males and 24 were females. The median age of onset was 12 years old (range 10-18 yearsold). They visited clinics at Tanner stages 2 to 5 with typical secondary sexual characteristics. Nine cases (16%) were trigged by infection and 5 cases (9%) were triggered by insidious exercises. The period from onset to diagnosis was between 2 months and 6 years. Forty-five cases (82%) had neuropsychiatric symptoms as the main symptoms, followed by cardiovascular symptoms in 12 cases (22%), kidney damage in 7 cases (13%), and eye disease in 12 cases (22%). Fifty-four cases (98%) had the biochemical characteristics of methylmalonic acidemia combined with homocysteinemia, and 1 case (2%) had the isolated methylmalonic acidemia. Genetic diagnosis was obtained in 54 cases, with 20 variants identified in MMACHC gene and 2 in MMUT gene. In 53 children with MMACHC gene mutation,1 case had dual gene variants of PRDX1 and MMACHC, with 105 alleles. The top 5 frequent variants in MMACHC were c.482G>A in 39 alleles (37%), c.609G>A in 17 alleles (16%), c.658_660delAAG in 11 alleles (10%), c.80A>G in 10 alleles (10%), c.567dupT and c.394C>T both are 4 alleles (4%). All patients recovered using cobalamin, L-carnitine, betaine, and symptomatic therapy, and 54 patients (98%) returned to school or work. Conclusions: Patients with adolescence-onset MMA may triggered by fatigue or infection. The diagnosis is often delayed due to non-specific symptoms. Metabolic and genetic tests are crucial for a definite diagnosis. Treatment with cobalamin, L-carnitine, and betaine can effectively reverse the prognosis of MMA in adolescence-onset patients.

Radiological study of carrying angle among male and female and its clinical importance

: The long axes of the ulna and humerus form an acute angle when the upper limb is in its anatomical position and the elbow is fully extended is known as the carrying angle. It is typically larger in females than in males Anthropologists use the carrying angle to predict a person's sex; orthopaedic surgeons use it to surgically treat a variety of elbow disorders; and total elbow prosthetics. The study aimed to assess the carrying angle in an attempt to determine its value in both sexes, proposing a simple and reliable method for measuring it.The elbow radiographs taken in the normal anteroposterior and lateral views were assessed independently and uniformly by anatomists. A total of 70 adult radiographs between the ages of 18 to 76 years, 35 males and 35 females were gathered. To measure the angle, two lines were drawn: one along the mid-axis of the upper limb of the forearm, passing between the radius and ulna through the superior radioulnar joint, and the other along the mid-axis of the lower third of the humerus, where the angle is measured.The carrying angle is statistically more significant in females than in males among 70 radiographs. The p-value was 0.000 and the mean and SD for males were 14.3±2.740, while the mean and SD for females were 21.92±3.170.The current study concludes that there is a significant gender difference between females and males; carrying angle influences secondary sexual characteristics.

Delayed diagnosis of pituitary stalk interruption syndrome in a girl with short stature, spaniomenorrhea and normal secondary sexual characteristics: a case report

Delayed diagnosis of pituitary stalk interruption syndrome in a girl with short stature, spaniomenorrhea and normal secondary sexual characteristics: a case report

Is the deficiency in secondary sex characteristics a potential manifestation of SPENCD (Spondyloenchondrodysplasia)?

Is the deficiency in secondary sex characteristics a potential manifestation of SPENCD (Spondyloenchondrodysplasia)?

Isolation, culture, characterization and the functional study of testicular Leydig cells from Hezuo pig.

Testosterone, an important sex hormone, regulates sexual maturation, testicular development, spermatogenesis and the maintenance of secondary sexual characteristics in males. Testicular Leydig cells are the primary source of testosterone production in the body. Hezuo pigs, native to the southern part of Gansu, China, are characterized by early sexual maturity, strong disease resistance and roughage tolerance. This study employed type IV collagenase digestion combined with cell sieve filtration to isolate and purify Leydig cells from the testicular tissue of 1-month-old Hezuo pigs. We also preliminarily investigated the functions of these cells. The results indicated that the purity of the isolated and purified Leydig cells was as high as 95%. Immunofluorescence analysis demonstrated that the isolated cells specifically expressed the 3β-hydroxysteroid dehydrogenase antibody. Enzyme-linked immunosorbent assay results showed that the testosterone secretion of the Leydig cells cultured invitro (generations 5-9) ranged between 1.29-1.67 ng/mL. Additionally, the content of the cellular autophagy signature protein microtubule-associated protein 1 light chain 3 was measured at 230-280 pg/mL. Through this study, we established an invitro system for the isolation, purification and characterization of testicular Leydig cells from 1-month-old Hezuo pigs, providing a reference for exploring the molecular mechanism behind precocious puberty in Hezuo pigs.

A rare case of hereditary ataxia: Gordon Holmes syndrome: a review of the literature

Gordon Holmes syndrome is an extremely rare, autosomal recessive condition with characteristic features of cerebellar progressive ataxia, cerebellar atrophy, and hypogonadotropic hypogonadism, which was first described in 1908 by the British neurologist of the same name. Two genes have to date been frequently associated with this syndrome, RNF216 and PNPLA61. A 23-year-old man presented with secondary sexual character deficiency and progressive difficulty in gait persisting for several years. He was eventually immobilized after seven years of ongoing symptoms and was definitively diagnosed with Gordon Holmes syndrome after genetic testing revealed RNF216 gene mutation.

Delayed Puberty and Management of Treatment.

Delayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and acquired), (ii) permanent hypogonadotropic hypogonadism (congenital and acquired), and (iii) transient hypogonadotropic hypogonadism [constitutional delay of growth and puberty (CDGP) and functional hypogonadotropic hypogonadism (FHH)]. CDGP is the most common cause of hypogonadism in both males and females, accounting for 60% and 30% respectively. Testosterone is the primary treatment for male hypogonadism, while estrogen and progesterone are used for female hypogonadism. However, in recent years, physiological induction therapy protocols such as human chorionic gonadotropin (hCG) monotherapy, hCG + Follicle-stimulating hormone combined therapy, and gonadotropin releasing hormone infusion have been recommended for the treatment of hypogonadotropic hypogonadism to increase long-term fertility success. There is no clear consensus on treatment protocols for physiological induction treatment and its effect on fertility. This review will discuss the clinical approach to hypogonadism, as well as traditional and physiological induction protocols.

Effect of Educational Intervention on Pubertal Changes among Adolescent School Girls in the Rural Areas of Varanasi District, Uttar Pradesh, India

Aim: The aim is to study the understanding on pubertal changes among adolescent school girls using educational intervention. Methodology: This is a cross-sectional study among adolescent girls aged 12-18 years in the rural areas of Varanasi district. It was conducted among 240 adolescent school girls across 5 selected villages following consent and assent in Varanasi district in Uttar Pradesh over a period of two years. A self-structured questionnaire was administered to the sample subjects. Awareness creation was done using individual information dissemination over the period of 3 months. Data was collected into excel sheet and analysis done using paired t test. Results: Respondents showed lack of knowledge regarding meaning of menstruation, male and female reproductive organs, growth of primary and secondary sex characteristics during adolescence and external and internal changes in body during adolescence. Significant differences were seen in awareness regarding aspects of pubertal changes during adolescence among respondents due to intervention among respondents of experimental group. Conclusion: Educational intervention through information dissemination in the schools is an effective way in improving their developmental phase.

Incidence of Type 2 Diabetes Mellitus in Transgender Individuals Undergoing Gender Affirming Hormonal Therapy: A Systematic Review.

Gender-affirming hormonal therapy (GAHT), which includes estrogen, testosterone, androgen agonists, is commonly used in transgender individuals to change their secondary sexual characteristics to align with their gender identity. However, this treatment could result in metabolic side effects that could increase the chances of acquiring type 2 diabetes mellitus. Thus, this study aims to compare differences in body mass index (BMI), insulin resistance, and the incidence of type 2 diabetes mellitus between cisgender and transgender individuals undergoing GAHT. Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards, we conducted a systematic review searching through PubMed, Google Scholar, Medline (Medical Literature Analysis and Retrieval System Online), and ResearchGate for articles published between 2014 and 2024. The final search was conducted in February 2024. Out of the 3,934 articles reviewed, 11 were selected, focusing on insulin sensitivity/resistance, diabetes incidence, and BMI changes with GAHT. Although our result findings did not show clear evidence of increased diabetes incidence among GAHT patients, it was observed that GAHT does increase BMI and insulin resistance in transgender individuals. Notably, compared to transgender men, transgender women on GAHT were found to be more prone to insulin resistance. We recommend regularly monitoring insulin sensitivity parameters and HbA1c during GAHT to monitor metabolic side effects. Further research and more clinical trials are needed to confirm the GAHT's impact on insulin resistance and to evaluate its role in the onset of type 2 diabetes mellitus.

Ultrahigh-Sensitivity Detection of 17β-Estradiol

17β-estradiol (E2), a vital female sex hormone, plays a crucial role in female reproductive cycles and secondary sexual characteristics. The quantification of E2 concentration in human blood and urine samples is essential because a deviation from physiological levels of E2 indicates the development of diseases and abnormalities such as precocious puberty, breast cancer, weight gain, abnormal menstruation, osteoporosis, and infertility. In addition, the detection of E2 in food and the environment has gained widespread interest because of its role as an endocrine disruptor (environmental hormone) that can perturb physiological processes. E2 is used as a drug for hormone therapy. Various E2 detection technologies for diagnosing relevant human diseases, drug screening, and environmental monitoring have been demonstrated in studies. In this article, we have reviewed technological strategies developed for E2 detection with ultrahigh sensitivity, with a limit of detection comparable to several pg/mL or lower. We observed that gold nanoparticles (AuNPs) were used as nanoplatforms for signal amplification, which enabled ultrahigh sensitivity in most studies. Signal amplification was facilitated by AuNP characteristics such as the versatility of surface biochemistry, exceedingly large surface-to-volume ratio, surface plasmonic activity, luminescence quenching ability, and biocompatibility. These techniques have been used to detect E2 in food, water, human serum, and urine with ultrahigh sensitivity. We summarize the working principles of E2 detection strategies that allow ultrahigh sensitivity and provide an approach for future work required for the elucidation of practical applications of these technologies.

Sexual differences in bite force are not related to testosterone level in the wild-derived red junglefowl

Abstract Bite force is an important performance indicator of individual fitness that is closely related to food acquisition, male competition, and mating selection. It is also affected by a variety of factors and different mechanisms. Therefore, it is relatively difficult to understand the evolutionary driving forces of changes in bite force. In this study, the driving factors affecting the bite force of wild-derived red junglefowl (Gallus gallus jabouillei) were investigated from the aspects of morphological indicators and physiological characteristics. Results showed that the bite force of wild-derived red junglefowl was directly related to sex, showing obvious sexual differences. However, there was no correlation between the plasma testosterone level and bite force. The bite force of males was significantly greater than that of females, and the body index (i.e., PC1 of five body measures, namely body mass, body length, wing length, tail length, and tarsus length), the grasp index (i.e., tomial length × bill width) of males were significantly greater than those of females. Sexual selection may have played a key role in the evolution of bite force in the red junglefowl. Future studies should examine other key factors affecting changes in bite force to verify the correlation between secondary sexual characteristics and bite force in red junglefowls.

Autism and risk of precocious puberty: A cohort study of 22,208 children

BackgroundAutism is a common neurodevelopmental disorder in children. Evidence suggests that autism is associated with changes in puberty onset. Precocious puberty (PP) is the early development of secondary sex characteristics. This nationwide cohort study explored PP risk in autistic children. MethodsUsing data from the Taiwan National Health Insurance Research Database, 11,104 autistic children and 11,104 age- and sex-matched non-autistic children were enrolled between 2001 and 2011. Participants were followed from enrollment until the end of 2011 to determine the incidence of PP. Cox regression models were used to account for confounding factors, such as demographic characteristics and physical and psychological comorbidities. ResultsAutistic children were more likely than non-autistic children to experience PP (hazard ratio: 6.48, 95% confidence interval: 3.61–11.62). Subgroup analyses by sex and intellectual disability further demonstrated consistent findings that PP was more prevalent in autistic children than in non-autistic children. ConclusionAutism is an independent risk factor for subsequent PP. Autistic children may have an increased PP risk, and early detection and treatment may reduce the psychological and physical consequences.

The Increased Prevalence of Precocious Puberty in Female Children and its Association with the Link to Increased Sexual Imbalances in Later Life

Precocious puberty, the premature onset of secondary sexual characteristics before the age of 8 in girls, has emerged as a growing concern in pediatric endocrinology. The prevalence of precocious puberty has witnessed a noticeable rise in recent decades, attributed to various environmental, genetic, and lifestyle factors. This surge in early maturation poses significant challenges not only to affected individuals and their families but also to healthcare systems worldwide. Moreover, beyond the immediate physical changes, there exists a complex interplay between precocious puberty and future sexual imbalances. Studies suggest that early puberty may predispose females to a myriad of health issues, including increased risk of metabolic disorders, psychological challenges, and reproductive complications later in life. Furthermore, the societal implications of this trend cannot be overlooked, as it may exacerbate existing gender disparities and contribute to broader socio-cultural issues. Understanding the link between precocious puberty and future sexual imbalances is crucial for developing effective preventive strategies and providing comprehensive care to affected individuals. This necessitates interdisciplinary research efforts encompassing endocrinology, psychology, genetics, and public health. In conclusion, this review shall highlight the urgent need for continued investigation into the escalating prevalence of precocious puberty in female children and its far-reaching implications for sexual health and well-being across the lifespan. By elucidating the underlying mechanisms and risk factors, healthcare professionals can better address this growing public health concern and mitigate its long-term consequences on individuals and societies alike.

Primary Amenorrhoea

The amenorrhoea is the normal physiological feature in prepubertal girls, failure to commence menstruation is primary amenorrhea. A normal uterovaginal anatomy and functional hypothalamic pituitary ovarian (HPO) axis is essential for menstruation. The detailed relevant medical and family history along with thorough physical examination adds in for requesting relevant investigations to find out the cause. In the absence of secondary sexual characteristics, hormonal disturbances are the most likely cause while anatomical problems are more common in the presence of secondary sexual characteristics, along with physiological delays and endocrinopathies. Investigate primary amenorrhoea without secondary sexual development at 13 years and with secondary sexual development at 15 years of age, consider early referral if suspicion of chromosomal abnormality, hyperandrogenemia, anatomical abnormalities or primary amenorrhoea persists for five years after thelarche. The multidisciplinary team approach, to support patient and parents with evidence base knowledge for decision-making is the corner stone. It is important to address patient and their family needs, individually for the best outcome.

Sex-specific scaling of leaf phosphorus vs. nitrogen under unequal reproductive requirements in Eurya japonica, a dioecious plant.

Previous work searching for sexual dimorphism has largely relied on the comparison of trait mean vectors between sexes in dioecious plants. Whether trait scaling (i.e., the ratio of proportional changes in covarying traits) differs between sexes, along with its functional significance, remains unclear. We measured 10 vegetative traits pertaining to carbon, water, and nutrient economics across 337 individuals (157 males and 180 females) of the diocious species Eurya japonica during the fruiting season in eastern China. Piecewise structural equation modeling was employed to reveal the scaling relationships of multiple interacting traits, and multivariate analysis of (co)variance was conducted to test for intersexual differences. There was no sexual dimorphism in terms of trait mean vectors across the 10 vegetative traits in E. japonica. Moreover, most relationships for covarying trait pairs (17 out of 19) exhibited common scaling slopes between sexes. However, the scaling slopes for leaf phosphorus (P) vs. nitrogen (N) differed between sexes, with 5.6- and 3.0-fold increases of P coinciding with a 10-fold increase of N in male and female plants, respectively. The lower ratio of proportional changes in P vs. N for females likely reflects stronger P limitation for their vegetative growth, as they require greater P investments in fruiting. Therefore, P vs. N scaling can be a key avenue allowing for sex-specific strategic optimization under unequal reproductive requirements. This study uncovers a hidden aspect of secondary sex character in dioecious plants, and highlights the use of trait scaling to understand sex-defined economic strategies.