Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes DESIGN AND SETTING: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil) METHODS: All men aged 20-40 years with non-obstructive azoospermia were included in the analysis. RESULTS: The 107 cases included 14 with Klinefelter syndrome (KS) (13%), 1 with mosaic KS, 4 with sex development disorders (2 testicular XX, 1 NR5A1 gene mutation, and 1 mild androgen insensitivity syndrome) (4%), 9 with other non-obstructive azoospermia etiologies (8%), and 79 with undefined causes. The 22 chromosomal anomaly cases (14 KS, 1 mosaic KS, 2 testicular XX, 4 sex chromosome anomalies, and 1 autosomal anomaly) were compared with the 79 undefined cause cases. The KS group had lower average testicular volume, shorter penile length, and lower total testosterone levels but greater height, arm span, serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, and gynecomastia frequency (absent in the undefined group and affecting more than half of the KS group). Patients with testicular XX DSD had LH, FSH, and penile length data intermediate between the KS and undefined cause groups, testicular volume similar to the KS group, and other data similar to the undefined group. CONCLUSION: Clinical and laboratory data differentiate men with non-obstructive azoospermia and chromosomal anomalies, particularly KS and testicular XX, from those with undefined causes or other chromosomal anomalies.

A case of 46, XY disorders of sexual development caused by the heterozygous mutation of DHX37 gene / 中华实用儿科临床杂志

A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.

A case of 46, XY disorders of sexual development caused by the heterozygous mutation of DHX37 gene / 中华实用儿科临床杂志

A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.

Molecular diagnosis and clinical features of 206 patients with 46, XY disorders of sexual development / 中华内分泌代谢杂志

Objective:To investigate methods of molecular diagnosis and clinical features of 46, XY disorders of sexual development(DSD).Methods:A total of 206 cases of 46, XY DSD patients, who visited the Shanghai Ninth People′s Hospital, Shanghai Jiaotong University School of Medicine, from July 2009 to June 2021, underwent AA chip based on multiplex PCR and probe-capture-targeted next-generation sequencing. Clinical features of patients with genetic diagnosis were analyzed.Results:Among 206 patients, the diagnostic rate of patients with micropenis, hypospadias and cryptorchidism was the highest, up to 75.28%. Almost all patients had different degrees of undermasculinized external genitalia. The most frequent phenotype was micropenis with hypospadias(87.25%). Only one gene variant was detected in 81 patients(39.32%), multiple genetic variants were detected in 104 patients(50.49%), and no gene variant was identified in 21 patients(10.19%). 107 patients had definite genetic diagnosis, with a diagnostic rate of 51.94% by adding the pathogenic and likely pathogenic ratios following the American College of Medical Genetics and Genomics(ACMG) guidelines, including 40 patients of steroid 5α-reductase type 2(SRD5A2) variants(37.38%), 36 patients of androgen receptor(AR) variants(33.64%), 13 patients of steroidogenic factor 1(NR5A1) variants(16.82%), 6 patients of 17β-hydroxysteroid dehydrogenases 3(HSD17B3) variants(5.61%), 2 patients of 17α-hydroxylase/17, 20-lyase enzyme(CYP17A1), Wilms′ tumor 1(WT1) and GATA binding protein 4(GATA4) variants(1.87%), and one patient of luteinizing hormone receptor(LHCGR) variant(0.93%). Gynecomastia was found in 29 of 81 postpubertal patients, of which 25(86.21%) had AR variants.Conclusions:46, XY DSD presents complex clinical manifestations and molecular etiologies. Targeted nextgeneration sequencing has the advantages of high throughput, high efficiency and low cost, which has a high value especially in etiological diagnosis of 46, XY DSD with large genetic heterogeneity.

Síndrome de insensibilidad a andrógenos: revisión bibliográfica a propósito de 5 casos / Androgen insensitivity syndrome: literature review about 5 cases

El síndrome de insensibilidad a andrógenos (AIS en la sigla inglesa) es una entidad muy poco frecuente en endocrinología. Se caracteriza por la mutación del receptor de andrógenos de magnitud variable, por medio del cual individuos 46,XY no se virilizan normalmente, a pesar de conservar sus testículos y tener concentraciones de testosterona en rango masculino. El cuadro clínico es variable y depende la profundidad de la alteración del receptor. En un extremo, hay casos de insensibilidad androgénica completa (CAIS) con fenotipo femenino. En el otro extremo hay insensibilidad parcial (PAIS) que se extiende desde el fenotipo femenino, con o sin ambigüedad genital, hasta los casos de hombres infértiles o con subvirilización, que presentan insensibilidad androgénica más leve. En los fenotipos femeninos, los testículos suelen estar en posición ectópica y aquellos ubicados dentro del abdomen tienen riesgo de malignizarse, por lo que suelen extirparse. Estos son los casos de más difícil manejo, pues aparte de la necesidad de gonadectomía seguida de terapia hormonal femenina, existe una vagina estrecha y en fondo de saco ciego y que suele requerir corrección quirúrgica para permitir la actividad sexual. En este trabajo presentamos 5 casos de AIS vistos recientemente en 2 centros clínicos de Santiago y que ilustran la heterogeneidad de presentación. Además, hacemos una revisión actualizada de los criterios diagnósticos, los tratamientos más adecuados y el manejo global de esta condición.

The Androgen insensitivity syndrome (AIS, in its English acronym) is a very rare entity in endocrinology. It is characterized by a variable magnitude androgen receptor mutation, whereby 46, XY individuals are not normally virilized, despite retaining their testicles and having testosterone concentrations in the male range. The clinical picture is variable and depends on the depth of the receptor alteration. At one extreme, there are cases of complete androgenic insensitivity (CAIS) with a female phenotype. At the other extreme, there is partial insensitivity (PAIS) that extends from the female phenotype, with or without genital ambiguity, to cases of infertile or undervirilized men, who have milder androgenic insensitivity. In female phenotypes, the testes are usually in an ectopic position and those located within the abdomen are at risk of malignancy, and therefore are usually removed. These are the most difficult cases to manage because apart from the need for gonadectomy followed by female hormonal therapy, there is a narrow vagina and a deep blind pouch that usually requires surgical correction to allow sexual activity. In this work, we present 5 cases of AIS recently seen in 2 clinical centers in Santiago and that illustrate the heterogeneity of presentation. In addition, we make an updated review of the diagnostic criteria, the most appropriate treatments, and the overall management of this condition.

Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor / 中华内科杂志

The 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare disease. The clinical characteristics and gene mutation of 2 late-diagnosed 17-OHD patients with testicular tumor admitted to our hospital from March 2018 to February 2019 were analyzed retrospectively. The two 17-OHD patients were female (46, XY). Laparoscopic abdominal exploration found undeveloped testicles in grey-yellow or grey-red in the groin and iliac fossa. The testicles were removed and showed malignancy in pathology study. Sequencing of the CYP17A1 gene identified c.1247G>A/c.1427T>C and c.985_987delTACinsAA/c.1306G>A complex heterozygous mutations. Taking together, the possibility of 17-OHD should be considered in patients with hypertension, hypokalemia, adrenal adenomatoid hyperplasia together with 46, XY gonadal dysplasia, so as to make early diagnosis and treatment, and avoid dysplastic testicular turning to malignancy.

Relationship between soy isoflavone metabolites in urine and sexual development of adolescent girls / 中国学校卫生

Objective@#To explore the relationship between urinary soybean isoflavone metabolites and sexual development of adolescent girls.@*Methods@#Fifty girls of grade 5 from one primary school in Xingang City who met the inclusion criteria were selected. Sexual characteristic development was assessed and soybean isoflavone metabolites in urine was tested by ultra high speed liquid chromatography tandem mass spectrometry (UPLC MS/MS).@*Results@#Levels of dye xylinone in girls with different stages of sexual development (advanced, normal, and delayed groups) varied significantly[(186.7±24.1，171.8±22.8，155.3±21.6)μmol/mol] ( F =3.53， P <0.05), highest in advanced group. Urinary genistein was significantly higher in menarche group than that of non menarche group[(213.4±22.8，166.3±21.7)μmol/mol] ( t =2.16， P <0.05). Urinary genistein may be associated with early sexual development among adolescent girls.@*Conclusion@#High level of urine genistein may be related to the early sexual development of adolescent girls.

Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis / Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

RESUMEN Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

ABSTRACT Objective: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. Materials and methods: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is made on ways to improve the specialty. Conclusion: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.

Histopathological spectrum of disorders of sexual development: a case series of seven cases

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

Effect of smoking cessation on sexual functions in men aged 30 to 60 years

ABSTRACT Purpose We aimed to evaluate the effects of smoking cessation on the sexual functions in men aged 30 to 60 years. Materials and Methods Male patients aged 30 to 60 years that presented to the smoking cessation polyclinic between July 2017 and December 2018 were prospectively included in the study. The amount of exposure to tobacco was evaluated in pack-year. The patients filled the International Index of Erectile Function (IIEF) form before the cessation and six months after cessation of smoking. Patients were subgrouped according to age, education level and packs/year of smoking and this groups were compared in terms of IIEF total and all of the IIEF domains. Results The evaluations performed by grouping the patients according to age (30-39, 40-49 and 50-60 years) and education level (primary-middle school and high school-university) revealed that the total IIEF scores obtained after smoking cessation were significantly higher compared to the baseline scores in all groups (p=0.007 for the 30-39 years group and p <0.001 for the remaining groups). According to grouping by exposure to smoking (≤25, 26-50, 51-75, 76-100 and 101≥ packs/year), the total IIEF scores significantly increased after smoking cessation in all groups except 101≥ packs/year (p=0.051 for the 101≥ group and p <0.001 for the remaining groups). Conclusions Erectile function is directly proportional to the degree of exposure to smoking, and quitting smoking improves male sexual function in all age groups between 30-60 years of age regardless of pack-year and education level.

Relationship between puberty growth and sexual development of boys / 中国学校卫生

Objective@#To analyze the characteristics of puberty growth of boys and to explore the relationship between puberty growth and sexual development of boys.@*Methods@#Pubertal development of boys from grade 1 to grade 4 in Jiulongpo district of Chongqing was followed up once every six months. The data of height, weight, BMI, the age of first ejaculation and testicular development of boys from baseline to follow-up every 6 months for 5 years were analyzed. Based on peak height velocity (PHV), the average level of PHV and age at peak height velocity(PHA) were analyzed. ANOVA was used to compare the height growth rate of boys in different age groups before and after the first ejaculation. Kendall rank correlation was used to analyze the relationship between different stages of testicular development and BMI.@*Results@#The mean age of PHA was (11.72±1.03) years in adolescent height speed cohort, and the mean age of first ejaculation was (12.45±0.98) years before and after the first ejaculation cohort. There was significant difference in the increment of height before and after one year of the age of first ejaculation (P<0.05), the younger the age of the first ejaculation, the greater increase of height in the following year. The height, weight, BMI of boys aged 11 to 14 years were positively correlated with testicular volume(P<0.05).@*Conclusion@#The height growth of boys reached its peak one year before the first ejaculation, and began to decrease after first ejaculation, and the age of the first ejaculation of boys was negatively correlated with the increment of height in the following year, while the testicular development of boys was positively correlated with height, weight and BMI.

Level of physical activity and motor coordination of schoolchildren in different maturational stages / Nível de atividade física e coordenação motora de escolares em diferentes estágios maturacionais

INTRODUCTION: Studies and debates in the field of motor development reveal that sport and physical activity develop and improve motor skills. These studies seek to understand the changes that occur with movement, which becomes more complex as it develops through physical activity. OBJECTIVE: To compare the level of physical activity and motor coordination of students in different maturational stages and to relate the level of physical activity with the motor coordination of young people. METHODS: Descriptive research with cross section. The study included 46 male individuals, aged between 10 and 14 years. The Baecke Habitual Physical Activity questionnaire was applied; the maturity stage was verified through the Pubertal Maturation Prediction Equation; body composition was assessed using the Guedes protocol for children and adolescents; Finally, the coordinating performance was rated using the Korperkoordinationstest fur Kinder (KTK) test battery. RESULTS: There were significant differences for the variables Age and Height between all stages: P3, P4 and P5 of maturation. The differences found in body mass occurred only between stages P3 and P5; P4 and P5. It was also observed that no significant differences were found for motor coordination between the maturation stages. The same occurred when the physical activity indices were compared CONCLUSION: There is no difference in the level of physical activity between stages 3, 4 and 5 of sexual maturation, nor does the maturational stage seem to influence the level of motor coordination of young schoolchildren.

INTRODUÇÃO: Estudos e debates na área do desenvolvimento motor revelam que o esporte e a atividade física desenvolvem e melhoram as habilidades motoras. Esses estudos buscam compreender as mudanças que ocorrem com o movimento, o qual se torna mais complexo à medida que se desenvolve através da atividade física. OBJETIVO: Comparar o nível de atividade física e coordenação motora de escolares em diferentes estágios maturacionais e relacionar o nível de atividade física com a coordenação motora de jovens MÉTODO: Pesquisa descritiva com corte transversal. Participaram do estudo 46 indivíduos do sexo masculino, com idades entre 10 e 14 anos. Foi aplicado o questionário de Atividade Física Habitual de Baecke; o estágio de maturidade foi verificado através da Equação de Predição da Maturação Puberal; a composição corporal foi avaliada através do protocolo de Guedes para crianças e adolescentes; por fim, o desempenho coordenativo foi classificado por meio da bateria de testes Korperkoordinationstest fur Kinder (KTK). RESULTADOS: Houve diferenças significativas para as variáveis Idade e Estatura entre todos os estágios: P3, P4 e P5 de maturação. As diferenças encontradas na massa corporal ocorreram apenas entre os estágios P3 e P5; P4 e P5. Observou-se também que não foram encontradas diferenças significativas para a coordenação motora entre os estágios de maturação. O mesmo ocorreu quando os índices de atividade física foram comparados. CONCLUSÃO: Não existe diferença no nível de atividade física entre os estágios 3, 4 e 5 da maturação sexual, assim como o estágio maturacional não parece influenciar o nível de coordenação motora de jovens escolares

A case report: 46 XY-disorder of sexual development

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

Application of next-generation sequencing in the diagnosis of sexual development disorders / 中华内分泌代谢杂志

Disorders of sexual development (DSD) are rare conditions with abnormal sex determination and gender differentiation. There exists divergence of changes in chromosomal mutation, gonadal or genitalia abnormalities in DSD patients. The etiology of DSD is intricate, and the inheritance is regarded as classically Mendelian in most of the cases. Approximately, 20％ of patients could receive an accurate genetic diagnosis by Sanger sequencing. Nowadays, with the development of Next-generation sequencing technology, the potential disease-causing genes of DSD are emerging. In additional, oligogenic forms of DSD were increasing identified, indicating the complexity of the pathogenesis of the disorders. The emergence of Next-generation sequencing technology is helpful to early diagnosis and gender assignment, also contributing to long-term treatment strategy selection by Multi-discipline Team ( MDT). Meanwhile, the oligogenic transmission will take great challenges to making genetic counseling.

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

Pubertad precoz, a propósito de un caso clínico / Precocious puberty. Regarding a clinical case

El inicio precoz de la pubertad es un motivo de consulta frecuente y se define como la aparición de signos puberales antes de los 8 años en las niñas y 9 años en los niños. Tiene una prevalencia de 29 x 100.000 habitantes, con un aumento importante durante los últimos años. Acontinuación se presenta un caso clínico de pubertad precoz, con cambios iniciales muy sutiles, que hicieron sospechar el diagnóstico. Se analiza el estudio inicial y manejo de esta patología.

Precocious initiation of puberty is a common complaint and is defined as the onset of puberty before 8 years in girls and 9 years in boys. It has a prevalence of 29 per 100.000 individuals and has increased markedly in recent years. We present a case of precocious puberty with very subtle initial changes which led to suspect the diagnosis. We analyze the initial study and treatment of this pathology.

Construction of MicroRNA-29b Overexpression Lentiviral Vector and Study on Its Biological Characteristics / 现代生物医学进展

Objective:To construct a lentiviral vector overexpression of micrRNA-29b and investigate the biological characteristics in mouse neuronal cell lines GT1-7.Methods:We chemically synthesized two oligonucleotide single-stranded,complete the comple-mentary by bridging extension into DNA double-stranded to form miR-29b precursor structure.The restriction enzyme digested vector plasmid FUGW was ligated to the precursor structure ofmiR-29b by homologous recombination to construct the corresponding lentiviral vector of microRNA-29b overexpression,and the stable cells were obtained in the mouse neuronal cell line GT1-7 by bleomycin drag screening.RT-PCR was used to detect the expression level of related genes at mRNA transcription level,Results:The recombinant lentiviral expression plasmid f-F-miR-29b was successfully constructed,and the expression level was about 30 times higher than that of the control group.The expressions of DCX,Vdac1 and pten were inhibited,have no changes in sex developmental related genes LH-β,kiss-l,Inshulin,IGF-I,GPR54,GnRH and leptin-R.Conclusion:Using the method of lentivirus screening,the microRNA-29b overexpressing stably transformed cells was successfully obtained in mouse neuron GT1-7 cells,which laid a foundation for the study of biological characteristics ofmicroRNA-29b.

Condições psicológicas e comportamentos sexuais de adolescentes / Psychological condition and sexual behavior of adolescents

O artigo apresenta um estudo sobre condições psicológicas e comportamentos sexuais de adolescentes em condição de vulnerabilidade social. Foram avaliados problemas psicológicos, competências e estados de identidade de 40 adolescentes, 12 a 18 anos, atendidos por um equipamento público de cidade da Baixada Santista (SP), voltado para desenvolvimento integral de jovens através de atividades socioculturais. Avaliação de comportamentos sexuais ocorreu com as meninas da amostra (N=33). Os instrumentos utilizados foram o YSR (Youth Self-Report for Ages 11-18), o EOMEIS-II-II (Extended Objective Measure of the Ego Identity Status) e o QSJ (Questionário de percepções e práticas sobre comportamento sexual em jovens). Resultados indicaram tendências positivas na avaliação de competências e estados de identidade. Resultados de problemas psicológicos distribuíram-se em faixas não clínicas, limítrofes e clínicas. Quase metade das meninas referiu já ter tido relação sexual, início aos 15 e 16 anos, com indicativos de conhecimentos e práticas voltadas à contracepção. Os resultados apontaram para a importância de estratégias de apoio cultural para desenvolvimento positivo de adolescentes inseridos em contextos socialmente deficitários.

This article presents a study about psychological condition and sexual behavior of adolescents in a circumstance of social vulnerability. Were evaluated psychological problems, competences and states of identity of 40 adolescents, between 12 and 18 years of age, served by public equipment from a city in the region of Santos (SP), directed to the integral development of youngsters through social and cultural activities. The evaluation of the sexual behavior occurred with the girls in the sample (N=33). The instruments used were YSR (Youth Self-Report for Ages 11-18), the EOMEIS-II-II (Extended Objective Measure of the Ego Identity Status) and the QSJ (questionnaire of perception and experience about sexual behavior in youngsters). The results indicated positive trends in the evaluation of competences and states of identity. Results indicating psychological problems were distributed in bands as non clinical, adjacent and clinical. Almost half the girls indicated having had sexual intercourse, beginning at 15 or 16, reporting previous knowledge of contraceptive practice. Results pointed to the importance of cultural support strategies for the positive development of adolescents inserted in contexts socially deficient.

Integrity of the plasma membrane, the acrosomal membrane, and the mitochondrial membrane potential of sperm in Nelore bulls from puberty to sexual maturity / A integridade da membrana plasmática, da membrana acrossomal e o potencial da membrana mitocondrial de espermatozoides de touros Nelore da puberdade até à maturidade sexual

This study evaluated the plasma membrane integrity, acrosomal membrane integrity, and mitochondrial membrane potential of Nelore bull sperm from early puberty to early sexual maturity and their associations with sperm motility and vigor, the mass motility of the spermatozoa (wave motion), scrotal circumference, and testosterone. Sixty Nelore bulls aged 18 to 19 months were divided into four lots (n=15 bulls/lot) and evaluated over 280 days. Semen samples, collected every 56 days by electroejaculation, were evaluated soon after collection for motility, vigor and wave motion under an optical microscope. Sperm membrane integrity, acrosomal integrity, and mitochondrial activity were evaluated under a fluorescent microscope using probe association (FITC-PSA, PI, JC-1, H342). The sperm were classified into eight integrity categories depending on whether they exhibited intact or damaged membranes, an intact or damaged acrosomal membrane, and high or low mitochondrial potential. The results show that bulls have a low amount of sperm with intact membranes at puberty, and the sperm show low motility, vigor, and wave motion; however, in bulls at early sexual maturity, the integrity of the sperm membrane increased significantly. The rate of sperm membrane damage was negatively correlated with motility, vigor, wave motion, and testosterone in the bulls, and a positive correlation existed between sperm plasma membrane integrity and scrotal circumference. The integrity of the acrosomal membrane was not influenced by puberty. During puberty and into early sexual maturity, bulls show low sperm mitochondrial potential, but when bulls reached sexual maturity, high membrane integrity with high mitochondrial potential was evident.(AU)

Este estudo avaliou a integridade da membrana plasmática, da membrana acrossomal e o potencial da membrana mitocondrial de espermatozoides de touros da raça Nelore da puberdade até à maturidade sexual e suas correlações com motilidade, vigor, turbilhão dos espermatozoides, circunferência escrotal e testosterona. Sessenta touros da raça Nelore, com idade entre 18 e 19 meses, foram divididos em quatro lotes (n=15 touros / lote) e foram avaliados por 280 dias. Coletaram-se as amostras de sêmen a cada 56 dias por eletroejaculação e, logo após, foram determinados a motilidade, o vigor e o turbilhão dos espermatozoides por microscopia óptica. A integridade da membrana de esperma, da membrana acrosomal e da atividade mitocondrial foi avaliada por microscopia de fluorescência, utilizando-se associação das sondas (FITC-PSA, PI, JC-1, H342). Os espermatozoides foram classificados em oito categorias de integridade, dependendo se eles exibiram membranas plasmática e mitocondrial intactas ou danificadas e potencial mitocondrial elevado ou baixo. Os resultados mostram que os touros têm uma baixa quantidade de espermatozoides com membranas íntegras na puberdade, com baixa motilidade, vigor e turbilhão. No entanto, nos touros na maturidade sexual precoce, a integridade da membrana dos espermatozoides aumentou significativamente. A taxa de dano à membrana espermática foi negativamente correlacionada com a motilidade, o vigor, o movimento das ondas e a concentração de testosterona nos touros, e uma correlação positiva existiu entre a integridade da membrana plasmática e a circunferência escrotal. A integridade da membrana acrossomal não foi influenciada pela puberdade.(AU)

Trastornos de diferenciación sexual

Objetivo: Presentar la clínica, citogenética y hallazgos histopatológicos en pacientes adultas, que consultaron a la Unidad de Endocrinología Ginecológica del Hospital Universitario de Caracas con trastornos de la diferenciación sexual. Se reportan cuatro casos clínicos: dos casos con trastorno de la diferenciación sexual 46, XY por alteración en la acción de los andrógenos anteriormente denominado insensibilidad androgénica parcial, una paciente con trastorno de la diferenciación sexual 46, XX y otra con trastorno de la diferenciación sexual 46, XY ovotesticular sin gonadoblastoma por síndrome de Frasier. Es importante realizar un diagnóstico temprano para su tratamiento precoz, por la trascendencia que la definición del sexo tiene para el futuro del individuo. Conclusiones: A pesar de los avances alcanzados a lo largo de los últimos 20 años, algunos casos quedan aún sin diagnóstico etiológico definido, sea por falta de estudio molecular o genes aún no conocidos. Su abordaje diagnóstico y terapéutico es complejo, requiere de un equipo multidiscplinario integrado por ginecólogos, endocrinólogos, psiquiatras, urólogos, cirujanos plásticos.

The aim of this paper is to present the clinical, cytogenetic and histopathological findings in adult patients who consulted the Gynecological Endocrinology Unit of the University Hospital of Caracas with Disorders of sexual development. Four clinical cases reported: Two with Disorder of sexual development 46, XY due defect in androgen action previously called partial androgen insensitivity, one patient with disorders of sexual development 46, XX and another with disorder of sexual development 46, XY ovotesticular without gonadoblastoma by Frasier syndrome. It is important an early diagnosis and treatment to define the sex for the individual’s future. Conclusion: Despite the progress made over the last 20 years, some cases are still without etiologic diagnosis, either through lack of molecular study or yet unknown genes. Its diagnostic and therapeutic approach is complex, requiring a team of gynecologists, endocrinologists, psychiatrists, urologists, plastic surgeons.