Development Of Secondary Sexual Characteristics Research Articles

Putative Role of CFSH in the Eyestalk-AG-Testicular Endocrine Axis of the Swimming Crab Portunus trituberculatus.

It has been shown in recent studies that the crustacean female sex hormone (CFSH) plays a crucial role in the development of secondary sexual characteristics in Decapoda crustaceans. However, research on the function of CFSH in the eyestalk-AG-testicular endocrine axis has been inadequate. We cloned and identified a homolog of CFSH, PtCFSH, in this study. RT-PCR showed that PtCFSH was mainly expressed in the eyestalk. A long-term injection of dsPtCFSH and recombinant PtCFSH (rPtCFSH) in vivo showed opposite effects on spermatogenesis-related gene expression and histological features in the testis of P. trituberculatus, and was accompanied by changes in AG morphological characteristics and PtIAG expression. In addition, the phosphorylated-MAPK levels and the expression of several IIS pathway genes in the testis was changed accordingly in two treatments, suggesting that PtCFSH may regulate the testicular development via IAG. The hypothesis was further validated by a mixed injection of both dsPtCFSH and dsPtIAG in vivo. The following in vitro studies confirmed the negatively effects of PtCFSH on AG, and revealed that the PtCFSH can also act directly on the testis. Treatment with rPtCFSH reduced the cAMP and cGMP levels as well as the nitric oxide synthetase activity. These findings provide vital clues to the mechanisms of CFSH action in both the eyestalk-AG-testis endocrinal axis and its direct effects on the testis.

Ethical Need for a Fertility Decision-Aid for Transgender Adults of Reproductive Age

Ethical Need for a Fertility Decision-Aid for Transgender Adults of Reproductive Age

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.

Disorders of sex development (DSD) are a group of clinical conditions with variable presentation and genetic background. Females with or without development of secondary sexual characters and presenting with primary amenorrhea (PA) and a 46,XY karyotype are one of the classified groups in DSD. In this study, we aimed to determine the genetic mutations in 25 females with PA and a 46,XY karyotype to show correlations with their phenotypes. Routine Sanger sequencing with candidate genes like SRY, AR, SRD5A2, and SF1, which are mainly responsible for 46,XY DSD in adolescent females, was performed. In a cohort of 25 patients of PA with 46,XY DSD, where routine Sanger sequencing failed to detect the mutations, next-generation sequencing of a targeted gene panel with 81 genes was used for the molecular diagnosis. The targeted sequencing identified a total of 21 mutations including 8 novel variants in 20 out of 25 patients with DSD. The most frequently identified mutations in our series were in AR (36%), followed by SRD5A2 (20%), SF1 (12%), DHX37 (4%), HSD17B3 (4%), and DMRT2 (4%). We could not find any mutation in the DSD-related genes in five (20%) patients due to complex molecular mechanisms in 46,XY DSD, highlighting the possibility of new DSD genes which are yet to be discovered in these disorders. In conclusion, genetic testing, including cytogenetics and molecular genetics, is important for the diagnosis and management of 46,XY DSD cases.

Premature Puberty Revealing an Ovarian Tumor in a Five-Year-Old Girl

Background: Ovarian tumors in the girl child are sometimes revealed by the development of secondary sexual characteristics. The authors report the case of a five-year-old girl in whom the disease was revealed by early puberty. Case presentation: A five-year-old girl with an enlarged abdomen for about four months. The onset of pain and the sensation of a mass prompted the consultation. The development of secondary sexual characteristics (SSC) noted by the family had not been mentioned. The patient was classified as pubertal stage 2 according to the Tanner classification. An abdominal ultrasound and a CT scan showed a large left ovarian mass, an enlarged uterus for the patient’s age and a normal right ovary. The hormonal workup was not contributive. The treatment consisted only of a left salpingo-ovarectomy, without complementary chemotherapy. Anatomic pathological examination of the surgical specimen concluded to a juvenile tumor of the granulosa. The evolution was good with a beginning of regression of the HSC one month after the ovarectomy. Discussion: Granulosa tumors are sometimes secretory cancers, generally with a low potential for malignancy and therefore a very good prognosis. Surgery based on total adnexectomy is the first-line treatment. The large size of the tumor, the presence of ascites and capsular rupture are factors of poor prognosis, hence the importance of early diagnosis. Conclusion: Routine comprehensive physical examination should be de rigueur for abdominal masses in girls, especially in the context of various beliefs that may impede early referral to care.

Depletion of stearoyl-CoA desaturase (scd) leads to fatty liver disease and defective mating behavior in zebrafish.

Stearyl coenzyme A desaturase (SCD), also known as delta-9 desaturase, catalyzes the rate-limiting step in the formation of monounsaturated fatty acids. In mammals, depletion or inhibition of SCD activity generally leads to a decrease in triglycerides and cholesteryl esters. However, the endogenous role of scd in teleost fish remains unknown. Here, we generated a zebrafish scd mutant (scd-/-) to elucidate the role of scd in lipid metabolism and sexual development. Gas chromatography-mass spectrometry (GC-MS) showed that the scd-/- mutants had increased levels of saturated fatty acids C16:0 and C18:0, and decreased levels of monounsaturated fatty acids C16:1 and C18:1. The mutant fish displayed a short stature and an enlarged abdomen during development. Unlike Scd-/- mammals, the scd-/- zebrafish showed significantly increased fat accumulation in the whole body, especially in the liver, leading to hepatic mitochondrial dysfunction and severe cell apoptosis. Mechanistically, srebf1, a gene encoding a transcriptional activator related to adipogenesis, acc1 and acaca, genes involved in fatty acid synthesis, and dgat2, a key gene involved in triglyceride synthesis, were significantly upregulated in mutant livers to activate fatty acid biosynthesis and adipogenesis. The scd-/- males exhibited defective natural mating behavior due to defective genital papillae but possessed functional mature sperm. All defects in the scd-/- mutants could be rescued by ubiquitous transgenic overexpression of scd. In conclusion, our study demonstrates that scd is indispensable for maintaining lipid homeostasis and development of secondary sexual characteristics in zebrafish.

Perceptions and practices related to menstruation and reproductive health in adolescent girls in an urban population - A cross sectional study.

Menarche is an important biological milestone in a woman's life as it marks the onset of the reproductive phase of her life. It is, often considered an impure phenomenon in Indian society owing to cultural taboos and insufficient and incorrect information and causes unnecessary restrictions in the day-to-day normal activities of menstruating girls. To assess the perception and practices related to menstruation and reproductive health among school-going adolescent girls in the urban population in Kochi, Kerala. To elicit the practices regarding menstruation and reproductive health among the school-going, adolescent girls. i. To elicit the beliefs, perceptions, and sources of information regarding menstruation and reproductive health among the school going, adolescent girls. ii. To find out the relation between perceptions/practices and other factors. A cross-sectional study was conducted among 100 adolescent girls of a secondary school situated in Ernakulam, Kerala, with the help of a pre-designed and pre-tested questionnaire. Data were analyzed statistically by simple proportions. 89% of the girls were aware of menstruation before menarche. A major source of information was found to be mothers. More than 70% used sanitary pads and 99% of girls knew menses as a natural phenomenon. 80% of girls with good perception had no menses-related anxiety. 54% haven't even heard of Pre-Menstrual Syndrome. 40% have inhibition talking about menses to their father or brother. Among girls with good practice, 87% had a good perception. Before bringing any change in menstrual practices, Family physicians can play a role in educating the girls about the significance of menstruation and the development of secondary sexual characteristics, the selection of a sanitary menstrual absorbent, and its proper disposal. Trained personnel, school teachers, and knowledgeable parents can play a very important role in imparting menstrual health-related information to adolescent girls.

Key Aspects Of The Development Of The Menstrual And Ovarian Cycle In Adolescent Girls

To determine the causative factors that are etiological factors in the development of menstrual-ovarian cycle disorders in the structure of gynecological pathology among adolescent girls in the Bukhara region and develop recommendations for the early prevention of reproductive dysfunctions. Violation of the harmony of development, lagging pace and timing of the development of secondary sexual characteristics, later than the “menarche” to a certain extent determines the low level of their reproductive health, which dictates the need for a thorough integrated approach and timely correction of premorbid conditions in adolescence. However, already today, starting from adolescence, we can use the possibilities of preventing the above pathologies to really provide, on a population scale, individualized preconception training for each girl and girl, aimed at strengthening the reproductive potential of the country.

Effect of puberty on the immune system: Relevance to multiple sclerosis.

Puberty is a dynamic period marked by changing levels of sex hormones, the development of secondary sexual characteristics and reproductive maturity. This period has profound effects on various organ systems, including the immune system. The critical changes that occur in the immune system during pubertal onset have been shown to have implications for autoimmune conditions, including Multiple Sclerosis (MS). MS is rare prior to puberty but can manifest in children after puberty. This disease also has a clear female preponderance that only arises following pubertal onset, highlighting a potential role for sex hormones in autoimmunity. Early onset of puberty has also been shown to be a risk factor for MS. The purpose of this review is to overview the evidence that puberty regulates MS susceptibility and disease activity. Given that there is a paucity of studies that directly evaluate the effects of puberty on the immune system, we also discuss how the immune system is different in children and mice of pre- vs. post-pubertal ages and describe how gonadal hormones may regulate these immune mechanisms. We present evidence that puberty enhances the expression of co-stimulatory molecules and cytokine production by type 2 dendritic cells (DC2s) and plasmacytoid dendritic cells (pDCs), increases T helper 1 (Th1), Th17, and T follicular helper immunity, and promotes immunoglobulin (Ig)G antibody production. Overall, this review highlights how the immune system undergoes a functional maturation during puberty, which has the potential to explain the higher prevalence of MS and other autoimmune diseases seen in adolescence.

Relative growth and morphological sexual maturity of the crab Hepatus pudibundus (Herbst, 1785) (Decapoda: Aethridae) in southeast Brazil

ABSTRACT The crab Hepatus pudibundus is a bycatch of the shrimp fishing industry, and despite having no commercial value, it is impacted by fishing activities. In this way, research about relative growth and sexual maturity can help to understand the life cycle of fisheries-affected species. Thus, the present study aimed to estimate morphological sexual maturity (MSM) and analyse the relative growth of a population of H. pudibundus. For morphometric analysis and MSM estimate, the following structures were measured: the carapace (CW) and abdomen width (AW), the left and right cheliped propodus length (LPL and RPL) and height (LPH and RPH) for both sexes, and the gonopodium length (GL) for males. No heterochely was observed for both sexes, but the propodus dimensions showed sexual dimorphism. Males attain MSM at 44.71 mm CW and females at 41.87 mm CW. Males and females showed higher growth rates in GL and AW, respectively, in the juvenile stage, suggesting a greater investment in the development of secondary sexual characteristics before MSM. The present study provides information on the growth pattern of the species, which is significant to the community structure of fishing areas and serves as a parameter for evaluating protective measures that have been implemented.

Six Novel Variants in the MKRN3 Gene Causing Central Precocious Puberty.

Idiopathic central precocious puberty (iCPP) is defined by the premature reactivation of the hypothalamic-pituitary-gonadal axis with normal magnetic resonance imaging scan of the central nervous system, causing the development of secondary sexual characteristics before age 8 years in girls and 9 years in boys. MKRN3 loss of function variants now represent the most common genetic cause of iCPP. This work aims to document the clinical course of puberty in 8 families harboring pathogenic MKRN3 variants. This is an observational case series study of patients with CPP due to MKRN3 variants followed in a single center. Genetic analysis of MKRN3 was carried out in 28 unrelated patients with iCPP and a family history of paternal inheritance or no/unavailable maternal inheritance, particularly in case of very early and rapidly evolving CPP. We identified 6 novel and 2 recently described variants in the MKRN3 gene in 9 girls, 1 boy, and their family members. These mutations were all predicted to be deleterious by in silico prediction programs. We have identified 6 novel MKRN3 mutations in children with CPP. An MKRN3 loss of function should be considered after careful history pinpointing paternally inherited CPP. A family segregation study allowed the detection of an MKRN3 variant in 2 young brothers still prepubertal, raising the question of screening and management of asymptomatic prepubertal family members.

PMON226 Primary Ovarian Insufficiency: A Case of a Missed Puberty

Abstract Premature Ovarian Insufficiency (POI) is a loss of ovarian function in women less than 40 years old. We present a case of a female with primary amenorrhea due to autoimmune primary ovarian insufficiency (APOI), in which diagnosis was delayed as she had normal breast and pubic/axillary hair development. A 18-year-old female presented to endocrine clinic for evaluation of primary amenorrhea and hypoplastic uterus and ovaries. During her regular follow ups with her pediatrician it was noted that she had not undergone menarche but since her breast development was normal, further evaluation was not pursued. She had a complicated social history and missed several of her follow up appointments. However, further evaluation was done after she presented with severe pain during intercourse. During her physical exam, it was found she had a vaginal opening of 4 cm with an unpalpable cervix. She did however have pubic/axillary hair and breast development consistent with Tanner stage V. Pelvic MRI showed hypoplastic uterus/ovaries. Her lab work revealed she had a total testosterone of 28ng/dL, prolactin 11.1ng/mL, TSH 1.68iIU/mL, LH 42.2mIU/mL, FSH99.77 mIU/mL, estradiol29.36 pg/ML, AMH 3.1ng/mL. Her karyotype was 46XX. Testing for Fragile×Syndrome and 21 hydroxylase antibodies were negative. Anti-ovarian antibody (AOA) was obtained and found to be positive (1: 160). She was diagnosed with APOI and started on estrogen with a goal to increase to adult doses over 1.5-2 years. Progestins are planned to be introduced once she reaches adult doses of estrogen or develops breakthrough bleeding. Typical presentation of patients with POI is primary amenorrhea and lack of breast development during puberty. However, it is important to remember that there can be a broad spectrum of presenting symptoms with variable breast, uterine, and ovarian development as not all patients have the same degree of estrogen deficiency. This is a case of a patient with POI with hypoplastic uterus and ovaries who had Tanner V breast development. Given this patients ovarian atrophy it is likely that the majority of estrogen production originated from adrenal glands and fat cells, which contributed to the normal development of secondary sexual characteristics delaying her diagnosis. Therefore, identification of abnormal menstrual patterns in adolescence should always raise concern for POI even in the setting of normal breast and pubic/axillary hair development. POI is due to premature deprivation of estrogen with subsequent amenorrhea and compensatory elevations in FSH/LH. Early diagnosis of this condition can prevent potential health complications in such as decreased bone mineral density, psychological complications, and extremely painful intercourse as our patient had. It is important to note that fertility in patients with POI is also unpredictable, however earlier diagnosis/treatment can improve fertility preservation, especially in women with normal AMH levels such as this patient. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

Caring for Transgender Youth with Eating Disorders in a Day Treatment Program

Background: The treatment of transgender youth with an eating disorder presents particular considerations due to the unique combination of body dissatisfaction, drive for thinness, malnutrition coupled with the evolving gender identity in the midst of biological and physical changes. At this time, public awareness, societal acknowledgment and legislative initiatives have led to wider acceptance of Lesbian, Gay, Bi-sexual and Transgender rights. However, at the same time, transgender youth are at increased risk for mental health problems, including eating disorders. Objective: To describe two cases of trans adolescents with anorexia nervosa treated in a day treatment program. Methods: In this paper, the two clinical vignettes of transgender adolescent with anorexia nervosa will be discussed. The focused care included specific attention to the initial disclosure of gender identity in a safe space, name and pronoun preferences as well as wardrobe and hair style changes. In addition, treatment focused on the reduction of social anxiety around meal consumption with special attention given to the impact of weight on the development of secondary sex characteristics. Themes of identity, rejection and secrecy were explored. Conclusion: In summary, the treatment of transgender youth with anorexia nervosa is more complex than treatment of cis gender youth. Additional issues, such as hormonal treatments, the development of secondary sexual characteristics as well as social and cultural factors can exacerbate eating disorder symptoms. Treatment should focus on understanding the etiology and the trajectory of the disorder within this lens.

Hypogonadism in adolescent girls: treatment and long-term effects.

Hypogonadism in adolescent females presents as delayed puberty or primary amenorrhea. Constitutional delay of growth and puberty, hypogonadotropic hypogonadism and hypergonadotropic hypogonadism represent the principal differential diagnosis of delayed puberty. Girls with hypogonadism require hormone replacement therapy to initiate and sustain puberty. We aimed to provide a brief review concerning treatment for female adolescents with hypogonadism and further to focus on current data regarding long-term effects of therapy. The published studies and articles of the international literature were used regarding the approach to adolescent girls with hypogonadism. The aim of therapy is the development of secondary sexual characteristics and achievement of target height, body composition and bone mass, to promote psychosexual health and, finally, to maximize the potential for fertility. Hypogonadal females need long-term HRT, so it is of great importance to fully define risks and benefits of therapy. The optimal pubertal induction in women contains both estrogens and progesterone regimens. Different therapeutic options have been described over the years in the literature, but larger randomized trials are required in order to define the ideal approach. The latest acquisitions in the field seem to propose that transdermal 17β-estradiol and micronized progesterone present the most physiological formulations available for this purpose. Further studies and follow up are needed concerning the long-term effects of HRT in adolescents.

Precocious Puberty: A Case Report

Background
 Puberty is a transitional period in children with acceleration of growth and development of secondary sexual characteristics. When this period appears before the age of 8 to 9 years in children, it is called precocious puberty. Depending on the primary source of the hormonal production, precocious puberty may be classified as central (gonadotropin dependent or true) or peripheral (gonadotropin independent or precocious pseudo-puberty).
 Case presentation 
 We herein report a case of precocious puberty in a 7,5-year-old girl who has shown early sign of secondary sexual development. Patients complained pain on her nipple, her breasts began to grow in size, and changes in her body odour, but had no complaints about her pubic hair growth and any vaginal discharge. Laboratory findings shown high level in fertility hormones and level of bone age is equal to 10-year-old girl. Patient then had begun to receive monthly therapy of Leuprolide.
 Conclusion
 Detailed history taking on chronological order of thelarche, pubarche, menarche, and adrenarche, followed by assessment on family history, nutritional history, child developmental history, medication history, and neurological complaints should be done in order to diagnose precocious puberty. Physical examination and other examination of bone age determination, Luteinizing Hormone and Follicle-Stimulating Hormone level, and pelvic ultrasound are essentials in defining the diagnosis and treatment. Leuprolide is indicated for Central Precocious Puberty patient who have advanced bone age at the time of initial evaluation. As a clinician, it is necessary to diagnose precocious puberty as soon as possible to have good prognosis for the patient.

Managing Dermatologic Effects of Gender-Affirming Therapy in Transgender Adolescents.

Transgender adolescents seek gender-affirming medical care to address gender identity and incongruence. Improved understanding of the dermatologic impact of gender-affirming medical care such as pubertal suppression, hormone therapy, and surgeries can enhance patient outcome. Pubertal suppression treats dysphoria associated with development of secondary sex characteristics, including androgen-driven acne. Gender-affirming hormone therapy influences acne and hair development in transgender adolescents. Dermatologists can help manage skin effects associated with chest binding and gender-affirming hormone therapy and surgery. Provision of patient-centered gender-affirming care in dermatologic and multidisciplinary settings is essential to improve skin and overall outcomes of gender-affirming therapy.

The Role of Gender Dysphoria in the Development of an Eating Disorder

The Role of Gender Dysphoria in the Development of an Eating Disorder

Pdf 03. Sexually dimorphic growth and maturity in captive mountain chicken frogs Leptodactylus fallax

ABSTRACT - Sexual dimorphism is commonly encountered in amphibians. Its presence and its ontogeny in a given species has implications for ecology, conservation and captive husbandry. We monitored changes in length and mass of captive mountain chicken frogs Leptodactylus fallax. Initially, sexes were no different in snout-vent length or mass, but by about 17 months after metamorphosis females became significantly larger and heavier than males. Diverging growth trajectories between male and female frogs appeared to coincide with the development of secondary sexual characters in males, indicating sexual maturity, while female frogs did not produce nests until the following breeding season, suggesting later reproductive maturity. The absence of similar dimorphism in other large leptodactylids suggests that its presence in L. fallax may be linked to its unique and energy-intense reproductive strategy, which involves extended maternal provisioning of their young.

Demayo Sandra

Introduction: Usual sex determination and differentiation occurs progressively during the period of embryonic development, involving chromosomal differentiation, gonadal differentiation, and somatic or genital differentiation. Swyer syndrome is a disorder of sex chromosomes and sexual differentiation characterized by 46, XY pure gonadal dysgenesis in a phenotypically female person with primary amenorrhea, and a complete absence of functioning gonadal tissue. Gonadal malignancy occurs in 10-30% of cases, so gonadectomy is indicated at the time of diagnosis. The treatment includes, in addition to the gonadectomy, hormone replacement therapy, and psychological support. Objective: To present a case diagnosed and managed in our institution, in addition to reviewing the recent literature about this rare condition, but with a strong physical, psychological and social impact. Methods: Analysis of clinical history of a patient with Swyer's Syndrome, diagnostic and therapeutic management. Bibliographic review. Presentation of the clinical case: An 18-year-old patient attends our hospital presenting primary amenorrhea. She presents BMI: 22; Tanner stage PH III BD III, gynecological examination with vulva and vagina with normal characteristics. Hormone profile requested: FSH 96.8 mU/ml, LH 32.9 mU/ml, Estradiol <25 pg/ml; Total testosterone 0.15 ng/ml. TV ultrasound shows a hypoplastic uterus of 23x11x29 mm, ovaries are not visualized, and a heterogeneous solid image of 22x23x24 mm in the left adnexal region. 46XY karyotype. In the presence of these results, a diagnosis of Swyer's syndrome is made, so an MRI was requested, which shows a uterus of 14x20x26 mm, ovaries are not visualized, a solid lobulated oval image of 23x33x47 mm poorly vascularized standing out in the left adnexal region and free inguinal canals. It was decided to perform exploratory laparoscopy and gonadectomy. The intraoperative findings were: intrapelvic hypoplastic uterus, uterine tubes without any particularities, enlarged left gonad of approximately 3x4 cm pearly white with a hard elastic consistency, and a fibrous band in the right adnexa. Bilateral adnexectomy was performed, obtaining as a histological result well-differentiated left dysgerminoma SALL4 +, OCT3/4 +, negative Inhibin and CD 117 +, and right streak gonad. Conclusions: In the presence of a person with primary amenorrhea and absence or poor development of secondary sex characteristics, Swyer's syndrome should be suspected, and pertinent studies should be requested to arrive at the diagnosis. It is essential to perform gonadectomy at the time of diagnosis due to the risk of malignant transformation. The importance of a multidisciplinary approach and psychological accompaniment of patients and relatives is highlighted.

A Simple Cortisol Biosensor Based on AuNPs-DNA Aptamer Conjugate

Cortisol plays a key role in maintaining human life, regulating body material metabolism, promoting the development of secondary sexual characteristics and ensuring human normal biological function. We have studied an AuNPs-DNA conjugate aptamer biosensor. 20 nm AuNPs were prepared by seed method, and cortisol aptamer were bonded to the surface of gold nanoparticles by Au-S bond. When DNA aptamer binds to cortisol, the intensity of UV-Vis absorption peak of AuNPs decreases. The biosensor can quantitatively detect cortisol at the nanomolar level. The detection range of the biosensor is 1-1000 nM. In addition, the biosensor does not recognize cortisol related compounds, indicating its high selectivity.

Effect of hypertensive disorders of pregnancy on pubertal development in daughters and sons: a systematic review and meta-analysis.

Hypertensive disorders of pregnancy (HDP) are a major cause of maternal and offspring morbidity and mortality worldwide. Several studies in recent years have focused on the link between HDP and pubertal development in offspring. The goal of this study was to synthesize the published literature on the effect of HDP on pubertal development in offspring by a systematic review and meta-analysis (PROSPERO 2021: CRD42020148736). A systematic literature search of several databases was conducted through December 2021, focusing on studies reporting pubertal development in offspring of women with and without HDP exposure. Primary outcomes of interest included offspring body mass index (BMI), height, waist and hip circumference, fat mass, pubarche, thelarche, and age at menarche. A total of 21 studies were finally included. Significantly higher values of BMI (SMD: 0.16 [0.11, 0.22]; p < 0.01) and waist circumference (SMD: 0.21 [0.14, 0.29]; p < 0.01) were found in offspring exposed to maternal HDP. In addition, a tendency of the early development of secondary sexual characteristics only in daughters was presented in offspring whose mothers were diagnosed with HDP. The findings imply a possible effect of HDP on pubertal development in offspring, especially for their BMI and waist circumference, which highlights the importance of focusing on adolescent developmental abnormalities in offspring exposed to HDP.