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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(2): 195-201, 2023 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-36709940

RESUMEN

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). METHODS: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out. RESULTS: Child 1 and 2 had a social gender of female, whilst their karyotypes were both 46,XY. No pathogenic variant was identified by WES. The results of CNV-seq were 46,XY,+Y (1.4) and 46,XY,-Y (0.75), respectively. The remaining three children have all carried an abnormal chromosome Y. Based on the results of CNV-seq, their karyotypes were respectively verified as 45,X[60]/46,X,del(Y)(q11.221)[40], 45,X,16qh+[76]/46,X,del(Y)(q11.222),16qh+[24], and 45,X[75]/46,XY[25]. CONCLUSION: CNV-seq may be used to verify the CNVs on the Y chromosome among children with DSD and identify the abnormal chromosome in those with 45,X/46,XY. Above results have provided a basis for the clinical diagnosis and treatment of such children.


Asunto(s)
Variaciones en el Número de Copia de ADN , Trastornos del Desarrollo Sexual , Humanos , Niño , Femenino , Aberraciones Cromosómicas , Cariotipificación , Trastornos del Desarrollo Sexual/genética
2.
Aquat Toxicol ; 255: 106375, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36603368

RESUMEN

Municipal wastewater treatment plant (WWTP) effluent is one of several point sources of contaminants (nutrients, pharmaceuticals, estrogens, etc.) which can lead to adverse responses in aquatic life. Studies of WWTP effluent impacts on rainbow darter (Etheostoma caeruleum) collected downstream of WWTPs in the Grand River, Ontario have reported disruption at multiple levels of biological organization, including altered vitellogenin gene expression, lower levels of in vitro steroid production, and high frequency of intersex. However, major upgrades have occurred at treatment plants in the central Grand River over the last decade. Treatment upgrades to the Waterloo WWTP were initiated in 2009 but due to construction delays, the upgrades came fully on-line in 2017/2018. Responses in rainbow darter have been followed at sites associated with the outfall consistently over this entire time period. The treatment plant upgrade resulted in nitrification of effluent, and once complete there was a major reduction in effluent ammonia, selected pharmaceuticals, and estrogenicity. This study compared several key responses in rainbow darter associated with the Waterloo WWTP outfall prior to and post upgrades. Stable isotopes signatures in fish were used to track exposure to effluent and changed dramatically over time, corresponding to the effluent quality. Disruptions in in vitro steroid production and intersex in the darters that had been identified prior to the upgrades were no longer statistically different from the upstream reference sites after the upgrades. Although annual variations in water temperature and flow can potentially mask or exacerbate the effects of the WWTP effluent, major capital investments in wastewater treatment targeted at improving effluent quality have corresponded with the reduction of adverse responses in fish in the receiving environment.


Asunto(s)
Trastornos del Desarrollo Sexual , Percas , Contaminantes Químicos del Agua , Purificación del Agua , Animales , Ontario , Contaminantes Químicos del Agua/toxicidad , Percas/fisiología , Esteroides , Preparaciones Farmacéuticas
4.
Front Endocrinol (Lausanne) ; 13: 1020880, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36518257

RESUMEN

Objective: To raise awareness of Cytochrome P450 Oxidoreductase Deficiency (PORD, a rare form of congenital adrenal hyperplasia (CAH), through a case of pregnant woman with virilization symptoms. Case description: A 30-year-old Chinese woman was referred to hospital after 7 years of presenting signs of virilization, including voice deepening, acromegaly, hirsutism, clitoromegaly, and acne. These symptoms appeared since her third gestation. Her second birth died 9 hours after birth and had signs of clitoris hypertrophy. Her third born was a son who presented with flat nose, radius and humerus bone malformation, and small penis at birth. Panel of POR-related genetic tests revealed that the patient carried c.1370 G>A (p.R457H), which is a POR heterozygous gene, while her husband carried a POR heterozygous gene as well, c.1379 C>A (p.S460Y). Two heterozygous mutations of the POR were found in her son: c.1370 G>A and c.1379 C>A. In PORD, c.1370 G>A (p.R457H) was reported as a susceptible gene, while c.1379 C>A (p.S460Y) has not been reported as responsible for the disease so far. Discussion and literature review: PORD is a rare form of CAH and caused by POR gene mutations. Most PORD patients are identified and diagnosed in pediatrics department. Internal medicine and obstetrics physicians are unfamiliar with the disease. As clinical manifestations are diverse, PORD could be easy to miss or to be misdiagnosed. Typical clinical manifestation includes adrenal insufficiency-related symptoms, such as bone malformations and sexual development disorders. PORD is diagnosed through genetic testing. Investigations of steroid metabolic products in urine through gas chromatography-mass spectrometry or liquid chromatography-mass spectrometry are also helpful for the diagnosis, but neither of them are widely available in China. In this case, the patient had a history of infertility, and her third child was born with congenital defect and carried a PORD-related gene. In general clinical practice, if a pregnant woman presents with abnormal virilization symptoms, CAH possibilities should be considered, including rare causes such as PORD. Conclusion: PORD is a rare autosomal recessive genetic disease. We summarised the clinical characteristics and genotypes that were previously reported in the Chinese population and identified a novel mutation.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Fenotipo del Síndrome de Antley-Bixler , Trastornos del Desarrollo Sexual , Humanos , Masculino , Niño , Embarazo , Recién Nacido , Femenino , Adulto , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/genética , Fenotipo del Síndrome de Antley-Bixler/diagnóstico , Fenotipo del Síndrome de Antley-Bixler/genética , Virilismo , Oxidorreductasas
5.
Horm Res Paediatr ; 95(6): 608-618, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36446331

RESUMEN

Testes were associated with maleness from antiquity, and ancient societies had fanciful myths about the origins of the sexes and about fetal sexual development. 17th century anatomists developed the concept that mammals developed from eggs and discovered sperm in semen; in 1878, Hertwig observed sperm entering eggs (of sea urchins), establishing the cellular basis of sex development. Individuals with atypical genitalia were known clinically in the 17th century, with much debate about their origins, but by the late 19th century it was generally accepted that gonads determined sex, and that sex determined gender role. Testosterone was isolated in 1935, and Alfred Jost showed that both circulating testosterone and diffusible anti-Mullerian hormone were needed for male development. Patients with apparent androgen insensitivity were reported in 1937 and shown to be unresponsive to exogenous androgen by Lawson Wilkins in 1957; androgen receptor mutations were reported in 1989. Steroidogenic errors were associated with differences in sex development (DSDs) starting in the 1940s, and finding mutations in the responsible enzymes explained many forms of hyper- and hypo-androgenism in both sexes. Sex chromosomes were identified in the early 20th century; Y was associated with maleness, and the responsible SRY gene was identified in 1991. Early efforts to manage patients with DSDs were confounded by philosophical perspectives on the relative roles of prenatal biology versus postnatal environment. Approaches to natal sex assignment evolved in the later 20th century and now emphasize a team approach based on data, not guessing, parental involvement, cultural considerations, and the acknowledgement of uncertainty.


Asunto(s)
Andrógenos , Trastornos del Desarrollo Sexual , Femenino , Niño , Animales , Embarazo , Masculino , Humanos , Semen , Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/terapia , Testosterona , Mamíferos
6.
Sex Reprod Health Matters ; 30(1): 2136027, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36369786

RESUMEN

Intersex people experience a range of human rights abuses, including non-consensual, irreversible medical interventions on minors. These abuses have lifelong effects, yet little is known about older intersex people. People in this diverse group face multiple marginalisations and erasures across different policy and practice arenas. This article reviews literature about intersex issues, drawing out materials relevant to older intersex people using an historically grounded approach. It focuses on the key issues affecting older intersex people living in a range of countries in the global North, as harmful medical practices originated in this region. Based on existing evidence, we found a pressing need for medical reform including a cessation of harmful medical practices and the development of appropriate healthcare that centres the needs and wishes of each intersex person. As intersex issues are currently heavily erased in most countries, research, cross-sectoral policy and practice work, and awareness-raising are all needed.


Asunto(s)
Trastornos del Desarrollo Sexual , Humanos , Derechos Humanos , Atención a la Salud , Envejecimiento
7.
Cells ; 11(21)2022 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-36359843

RESUMEN

Pituitary gonadotropins directly govern ovarian functions, which are in turn regulated by the ovarian steroid hormones. The precise interplay of gonadotropins and steroid hormones is critical for follicle growth and differentiation. Furthermore, autophagy regulates ovarian follicle differentiation. However, how the high-fat-high fructose (HFD-HF) diet regulates gonadotropins and facilitates autophagy-mediated follicular differentiation in the ovary is obscure. We fed prepubertal rats (PND 25) an HFD-HF diet until PND 90. The results showed diminished adenohypophyseal GnRHR, PR, and aromatase expression, whereas AR, ERα, PRLR, and inhibin were augmented, resulting in gonadotropins decline. Interestingly, autophagy biomarkers, Beclin-1, ATG5, ATG12, LC3-II, and LAMP1 were reduced but SQSTM1/p62 was augmented in the ovaries of HFD-HF-fed rats, causing autolysosome to aggregation. The diet altered T, E2, P4, PRL, and their receptors status in the ovary, disturbed estrous cyclicity, and delayed vaginal opening. Ovarian histomorphology exhibited numerous cystic and atretic follicles, along with disturbed follicular maturation and ovulation. Moreover, the reduction of FSHR; steroidogenic proteins; receptor proteins AR, ERß, PR; and signaling proteins Wnt2 and ß-catenin was also noticed in the ovary, whereas PRLR, inhibin, and pGSK3ß were augmented. In conclusion, exposure to a prepubertal HFD-HF diet leads to hypogonadotropism and the autophagy-mediated defective differentiation of ovarian follicles, abating fertility in adult rats.


Asunto(s)
Dieta Alta en Grasa , Fructosa , Folículo Ovárico , Animales , Femenino , Ratas , Autofagia , Dieta Alta en Grasa/efectos adversos , Fructosa/efectos adversos , Fructosa/metabolismo , Fructosa/farmacología , Gonadotropinas/metabolismo , Inhibinas/metabolismo , Folículo Ovárico/metabolismo , Folículo Ovárico/patología , Trastornos del Desarrollo Sexual
8.
Sci Rep ; 12(1): 17807, 2022 Oct 24.
Artículo en Inglés | MEDLINE | ID: mdl-36280698

RESUMEN

The genetic background of feline disorders of sex development (DSDs) is poorly understood. We performed comprehensive cytogenetic, molecular, and histological studies of 17 cats with abnormal external genitalia, unusual behavior, or tricolor coats (atypical in males). The DSD phenotype of three cats was associated with sex chromosome abnormalities: X/Y translocation (38,XXSRY+), 37,X/38,XY mosaicism, and XX/XY leukocyte chimerism. The remaining 14 affected cats were classified as XY DSD (SRY-positive). In this group and 38 normal males, we analyzed a priori selected candidate genes (SRY, TAC3, CYP11B1 and LHCGR). Only a previously reported nonpathogenic variant was found in SRY. Moreover, SRY gene copy number was determined, and three variants were observed: 6, 5 (modal), and 4 copies in a single DSD case. The known variants in TAC3 and CYP11B1, responsible for testicular hypoplasia, persistent primary dentition or congenital adrenal hyperplasia, were not found in the study group. Nine novel polymorphisms were identified in the LHCGR gene, one of which, a potentially regulatory indel variant in 5'UTR, was significantly associated (p = 0.0467) with XY DSD. Our report confirmed that abnormalities of sex chromosomes are important causes of feline DSDs. We also showed that the indel variant of LHCGR can be considered a promising marker associated with XY DSD phenotype.


Asunto(s)
Trastornos del Desarrollo Sexual , Esteroide 11-beta-Hidroxilasa , Masculino , Gatos , Animales , Esteroide 11-beta-Hidroxilasa/genética , Regiones no Traducidas 5' , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/veterinaria , Mosaicismo , Antecedentes Genéticos , Análisis Citogenético
9.
Hist Philos Life Sci ; 44(4): 50, 2022 Oct 25.
Artículo en Inglés | MEDLINE | ID: mdl-36282442

RESUMEN

The aim of the study is to encourage a critical debate on the use of normality in the medical literature on DSD or intersex. For this purpose, a scoping review was conducted to identify and map the various ways in which "normal" is used in the medical literature on DSD between 2016 and 2020. We identified 75 studies, many of which were case studies highlighting rare cases of DSD, others, mainly retrospective observational studies, focused on improving diagnosis or treatment. The most common use of the adjective normal was in association with phenotypic sex. Overall, appearance was the most commonly cited criteria to evaluate the normality of sex organs. More than 1/3 of the studies included also medical photographs of sex organs. This persistent use of normality in reference to phenotypic sex is worrisome given the long-term medicalization of intersex bodies in the name of a "normal" appearance or leading a "normal" life. Healthcare professionals should be more careful about the ethical implications of using photographs in publications given that many intersex persons describe their experience with medical photography as dehumanizing.


Asunto(s)
Trastornos del Desarrollo Sexual , Metáfora , Humanos , Estudios Retrospectivos , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/terapia
10.
G3 (Bethesda) ; 12(12)2022 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-36227030

RESUMEN

Structural rearrangements like copy number variations in the male-specific Y chromosome have been associated with male fertility phenotypes in human and mouse but have been sparsely studied in other mammalian species. Here, we designed digital droplet PCR assays for 7 horse male-specific Y chromosome multicopy genes and SRY and evaluated their absolute copy numbers in 209 normal male horses of 22 breeds, 73 XY horses with disorders of sex development and/or infertility, 5 Przewalski's horses and 2 kulans. This established baseline copy number for these genes in horses. The TSPY gene showed the highest copy number and was the most copy number variable between individuals and breeds. SRY was a single-copy gene in most horses but had 2-3 copies in some indigenous breeds. Since SRY is flanked by 2 copies of RBMY, their copy number variations were interrelated and may lead to SRY-negative XY disorders of sex development. The Przewalski's horse and kulan had 1 copy of SRY and RBMY. TSPY and ETSTY2 showed significant copy number variations between cryptorchid and normal males (P < 0.05). No significant copy number variations were observed in subfertile/infertile males. Notably, copy number of TSPY and ETSTY5 differed between successive male generations and between cloned horses, indicating germline and somatic mechanisms for copy number variations. We observed no correlation between male-specific Y chromosome gene copy number variations and male-specific Y chromosome haplotypes. We conclude that the ampliconic male-specific Y chromosome reference assembly has deficiencies and further studies with an improved male-specific Y chromosome assembly are needed to determine selective constraints over horse male-specific Y chromosome gene copy number and their relation to stallion reproduction and male biology.


Asunto(s)
Trastornos del Desarrollo Sexual , Caballos , Infertilidad Masculina , Animales , Masculino , Trastornos del Desarrollo Sexual/genética , Variaciones en el Número de Copia de ADN/genética , Genes Ligados a Y/genética , Caballos/genética , Infertilidad Masculina/genética , Infertilidad Masculina/veterinaria , Mamíferos/genética , Desarrollo Sexual , Cromosoma Y/genética
11.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(9): 1203-1210, 2022 Sep 06.
Artículo en Chino | MEDLINE | ID: mdl-36207881

RESUMEN

Disorders of sex development (DSD) is a class of diseases characterized by discordant phenotypes of sex chromosome karyotypes, gonads and external genitalia. The etiology is complex and the clinical manifestations are varied. Understanding the clinical characteristics of patients with various types of DSD help make accurate etiological diagnosis and prepare individualized treatment plans according to the etiology (including sex assignment, endocrine hormone replacement, surgery and fertility protection, etc.). Due to the increased risk of DSD in the second pregnancy of the parents of DSD patients, early preventive measures such as pre-pregnancy genetic counseling and prenatal diagnosis during pregnancy can effectively avoid or reduce the risk of DSD in their siblings.


Asunto(s)
Trastornos del Desarrollo Sexual , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/prevención & control , Femenino , Hormonas , Humanos , Embarazo , Hermanos
13.
Int J Mol Sci ; 23(18)2022 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-36142467

RESUMEN

Apoptosis plays a key role in the effective removal of excessive and defective germ cells, which is essential for sequential hermaphroditism and sex change in vertebrates. The ricefield eel, Monopterus albus is a protogynous hermaphroditic fish that undergoes a sequential sex change from female to male. Previous studies have demonstrated that apoptosis is involved in sex change in M. albus. However, the apoptotic signaling pathway is unclear. In the current study, we explored the underlying mechanism of apoptosis during gonadal development and focused on the role of the mitochondrial apoptosis signaling pathway in sex change in M. albus. Flow cytometry was performed to detect apoptosis in gonads at five sexual stages and ovary tissues exposed to hydrogen peroxide (H2O2) in vitro. Then the expression patterns of key genes and proteins in the mitochondrial pathway, death receptor pathway and endoplasmic reticulum (ER) pathway were examined. The results showed that the apoptosis rate was significantly increased in the early intersexual stage and then decreased with the natural sex change from female to male. Quantitative real-time PCR revealed that bax, tnfr1, and calpain were mainly expressed in the five stages. ELISA demonstrated that the relative content of cytochrome-c (cyt-c) in the mitochondrial pathway was significantly higher than that of caspase8 and caspase12, with a peak in the early intersexual stage, while the levels of caspase8 and caspase12 peaked in the late intersexual stage. Interestingly, the Pearson's coefficient between cyt-c and the apoptosis rate was 0.705, which suggests that these factors are closely related during the gonadal development of M. albus. Furthermore, the cyt-c signal was found to be increased in the intersexual stage by immunohistochemistry. After incubation with H2O2, the mRNA expression of mitochondrial pathway molecules such as bax, apaf-1, and caspase3 increased in ovary tissues. In conclusion, the present results suggest that the mitochondrial apoptotic pathway may play a more important role than the other apoptotic pathways in sex change in M. albus.


Asunto(s)
Trastornos del Desarrollo Sexual , Anguilas , Animales , Apoptosis , Calpaína/metabolismo , Citocromos c/metabolismo , Trastornos del Desarrollo Sexual/metabolismo , Anguilas/genética , Anguilas/metabolismo , Femenino , Peróxido de Hidrógeno/metabolismo , Peróxido de Hidrógeno/farmacología , Masculino , Oocitos/metabolismo , Ovario/metabolismo , ARN Mensajero/metabolismo , Receptores Tipo I de Factores de Necrosis Tumoral/metabolismo , Proteína X Asociada a bcl-2/metabolismo
14.
Cell Mol Life Sci ; 79(10): 522, 2022 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-36114905

RESUMEN

The transcription factor SOX9 is essential for the development of multiple organs including bone, testis, heart, lung, pancreas, intestine and nervous system. Mutations in the human SOX9 gene led to campomelic dysplasia, a haploinsufficiency disorder with several skeletal malformations frequently accompanied by 46, XY sex reversal. The mechanisms underlying the diverse SOX9 functions during organ development including its post-translational modifications, the availability of binding partners, and tissue-specific accessibility to target gene chromatin. Here we summarize the expression, activities, and downstream target genes of SOX9 in molecular genetic pathways essential for organ development, maintenance, and function. We also provide an insight into understanding the mechanisms that regulate the versatile roles of SOX9 in different organs.


Asunto(s)
Organogénesis , Factor de Transcripción SOX9/metabolismo , Displasia Campomélica , Cromatina , Trastornos del Desarrollo Sexual/genética , Humanos , Masculino , Mutación , Factor de Transcripción SOX9/genética
15.
BMC Med Genomics ; 15(1): 188, 2022 09 05.
Artículo en Inglés | MEDLINE | ID: mdl-36064700

RESUMEN

BACKGROUND: 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males show overexpression of pro-testis genes, such as SOX9 and SOX3, or failure of pro-ovarian genes, such as WNT4 and RSPO1, which induces testis differentiation, however, almost all testicles exhibit dysgenesis. Following inadequate exposure to androgens during the embryo stage, remnants of the Mullerian duct and incomplete closure of the urogenital sinus lead to enlargement of prostatic utricles. This condition is associated with proximal hypospadias and disorders of sex development. Many cases are asymptomatic, but show increased rates of postoperative complications and surgical failure. CASE PRESENTATION: A 5-year-old Chinese boy with scrotal hypospadias and bilateral cryptorchidism with prostatic utricles was presented. Gonadal histology showed ovo-testicular tissue on the right side and testicular tissue on the left side; all testicular tissue exhibited dysgenesis. Furthermore, chromosome karyotype analysis revealed 46,XX and, the presence of SRY was ruled out by polymerase chain reaction analysis. Whole-genome analysis showed the boy has a 1.4-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139585794-140996652) involving SOX3. No SOX3 duplication was observed in the parents, who had a normal phenotype. CONCLUSIONS: We report the first case of an SRY-negative 46 XX male with prostatic utricle caused by SOX3 duplication. SOX3 duplication may cause sex reversal, and all 46,XX SRY-negative males should be screened for SOX3 mutations. Gonadal biopsy is recommended to evaluate ovarian and testicular tissue development. Testicular dysgenesis and low exposure to male hormones during fetal development can lead to enlarged prostatic utricles. Thus endoscopic examination should be performed preoperatively to detect prostatic utricles in SRY-negative 46,XX males to determine the surgical plan and reduce postoperative complications.


Asunto(s)
Trastornos del Desarrollo Sexual , Hipospadias , Trastornos del Desarrollo Sexual/patología , Humanos , Masculino , Complicaciones Posoperatorias/patología , Factores de Transcripción SOXB1/genética , Sáculo y Utrículo , Testículo
16.
J Adolesc Health ; 71(6): 688-695, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36088232

RESUMEN

PURPOSE: Adolescence is an important period for sexual development, including sexual debut. The purpose of this study was to assess first romantic and sexual experiences and debut age in individuals with differences of sex development (DSD/intersex) and compare these with age-matched and gender-matched population control values. METHODS: Questionnaire data on sociodemographic characteristics, romantic and sexual milestones (e.g., masturbation, dating), satisfaction with sexual life and sexual activity at follow-up, self-esteem, and feelings of femininity or masculinity were collected from 976 participants in Europe with a DSD condition. Participants were divided into six diagnostic subgroups based on their diagnostic classification: women with Turner syndrome, congenital adrenal hyperplasia, 46XY-DSD nonvirilized, and 46XY-DSD female partially virilized conditions and men with 46XY-DSD male or Klinefelter syndrome. Age-specific and gender-specific reference values were retrieved from a Dutch population sample. RESULTS: Individuals with DSD were less likely to reach each of the romantic and sexual milestones compared to their peers without these conditions and they were significantly older when reaching these milestones. Between clinical subgroups, individuals with Klinefelter were significantly older when reaching milestones and in the female groups and individuals with Turner were the least likely to reach milestones. Furthermore, a higher age when reaching several romantic and sexual milestones was correlated with lower self-esteem, lower satisfaction with sexual life, and lower sexual frequency at follow-up. DISCUSSION: Due to a difference in biopsychosocial context, individuals with DSD often experience a different and/or delayed sexual development during adolescence. Healthcare providers should be aware of these differences in adolescents with DSD and their sexual development to optimize affirmative counseling.


Asunto(s)
Trastornos del Desarrollo Sexual , Desarrollo Sexual , Femenino , Adolescente , Masculino , Humanos , Trastornos del Desarrollo Sexual/epidemiología , Trastornos del Desarrollo Sexual/psicología , Conducta Sexual/psicología , Autoimagen , Encuestas y Cuestionarios
17.
Clin Ter ; 173(5): 475-488, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36155734

RESUMEN

Abstract: Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 newborns and according to the 2006 Chicago Consensus classification, DSD can be divided into three categories: those with a 46 XX karyotype, those with a 46 XY karyotype and those relating to sex chromosomes. It is crucial to correctly identify the pathology already in the first days of life to direct the patient and his family to the best path of care. For this reason, the role of the pediatrician is fundamental in the correct identification of the clinical picture and in supporting the family during the long process that involves the management of these patients. To make a diagnosis, it is necessary to follow a path led by a multidisciplinary team that includes several steps such as the execution of the genetic analysis, the evaluation with diagnostic imaging methods and laboratory evaluations. The therapeutic management, on the other hand, is still very complex even if in recent years we have moved from an attitude of early gender reassignment to an approach of watchful waiting to let the patient choose when she/he is mature enough to do so, which gender she/he feels to belong. It should not be forgotten that throughout this process the pediatrician must be both supportive and clinically active in the management of the child and his family.


Asunto(s)
Discapacidades del Desarrollo , Trastornos del Desarrollo Sexual , Niño , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/terapia , Familia , Femenino , Identidad de Género , Humanos , Recién Nacido
18.
Front Endocrinol (Lausanne) ; 13: 919670, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35909548

RESUMEN

The Sertoli cells of the testes play an essential role during gonadal development, in addition to supporting subsequent germ cell survival and spermatogenesis. Anti-Müllerian hormone (AMH) is a member of the TGF-ß superfamily, which is secreted by immature Sertoli cells from the 8th week of fetal gestation. lnhibin B is a glycoprotein, which is produced by the Sertoli cells from early in fetal development. In people with a Difference or Disorder of Sex Development (DSD), these hormones may be useful to determine the presence of testicular tissue and potential for spermatogenesis. However, fetal Sertoli cell development and function is often dysregulated in DSD conditions and altered production of Sertoli cell hormones may be detected throughout the life course in these individuals. As such this review will consider the role of AMH and inhibin B in individuals with DSD.


Asunto(s)
Hormona Antimülleriana , Trastornos del Desarrollo Sexual , Inhibinas , Células de Sertoli , Diferenciación Sexual , Hormona Antimülleriana/genética , Hormona Antimülleriana/metabolismo , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/metabolismo , Humanos , Subunidades beta de Inhibinas/genética , Subunidades beta de Inhibinas/metabolismo , Inhibinas/genética , Inhibinas/metabolismo , Masculino , Células de Sertoli/metabolismo , Diferenciación Sexual/fisiología , Espermatogénesis/fisiología , Testículo/metabolismo
19.
PLoS One ; 17(8): e0272452, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35951614

RESUMEN

Physiological responses to the environment, disease, and aging vary by sex in many animals, but mechanisms of dimorphism have only recently begun to receive careful attention. The genetic model nematode Caenorhabditis elegans has well-defined mechanisms of stress response, aging, and sexual differentiation. C. elegans has males, but the vast majority of research only uses hermaphrodites. We found that males of the standard N2 laboratory strain were more resistant to hyperosmolarity, heat, and a natural pro-oxidant than hermaphrodites when in mixed-sex groups. Resistance to heat and pro-oxidant were also male-biased in three genetically and geographically diverse C. elegans strains consistent with a species-wide dimorphism that is not specific to domestication. N2 males were also more resistant to heat and pro-oxidant when keep individually indicating that differences in resistance do not require interactions between worms. We found that males induce canonical stress response genes by similar degrees and in similar tissues as hermaphrodites suggesting the importance of other mechanisms. We find that resistance to heat and pro-oxidant are influenced by the sex differentiation transcription factor TRA-1 suggesting that downstream organ differentiation pathways establish differences in stress resistance. Environmental stress influences survival in natural environments, degenerative disease, and aging. Understanding mechanisms of stress response dimorphism can therefore provide insights into sex-specific population dynamics, disease, and longevity.


Asunto(s)
Proteínas de Caenorhabditis elegans , Trastornos del Desarrollo Sexual , Animales , Caenorhabditis elegans/metabolismo , Proteínas de Caenorhabditis elegans/genética , Proteínas de Caenorhabditis elegans/metabolismo , Femenino , Longevidad , Masculino , Especies Reactivas de Oxígeno/metabolismo , Caracteres Sexuales
20.
Artículo en Inglés | MEDLINE | ID: mdl-36011784

RESUMEN

The aim of this study was to investigate physical activity (PA) policies in Brazil through current actions/programs to promote PA for children and adolescents. All 23 official websites of federal government agencies in Brazil [eighteen ministries, two secretariats (linked to ministries) and three ministry equivalent agencies] were visited. All programs/actions were analyzed according to indicators of the Global Matrix project from the Active Healthy Kids Global Alliance (AHKGA) and the Health Enhancing PA Policy Audit Tool, version 2, recommended by the World Health Organization. Furthermore, we used the analysis of "Strengths, Weaknesses, Opportunities and Threats" (SWOT) for the policies. Seventeen programs/actions included the promotion of PA for children and adolescents in Brazil, however, none of them had this as their main objective, and none were planned as a public policy action aimed at the promotion of PA. The overall score of the assessment instrument was 37 (out of a total of 100), which classifies Brazil as having a D+ grade according to AHKGA criteria. Brazil needs to define PA as a state policy so that the actions identified in this study can have positive effects on children and adolescents.


Asunto(s)
Trastornos del Desarrollo Sexual , Conducta Sedentaria , Adolescente , Brasil , Niño , Ejercicio Físico , Política de Salud , Promoción de la Salud , Humanos
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