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1.
Reprod Biomed Online ; 47(2): 103232, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37301710

RESUMO

RESEARCH QUESTION: Is there potential for the detection of neuroblastoma malignancy in testicular tissue extracted for fertility preservation for prepubertal boys at the time of tissue freezing? DESIGN: This is a case report. RESULTS: A boy was diagnosed with primary localized left adrenal neuroblastoma, with complete resection of the tumour. During 6 months' surveillance, he developed a relapse in the left para-renal region with progression of molecular and chromosomal features into undifferentiated neuroblastoma. Before highly gonadotoxic treatment, testicular biopsy for fertility preservation was taken, from a clinically normal testis. Histopathological examination of the testicular biopsy revealed metastatic neuroblastoma. CONCLUSIONS: Metastatic neuroblastoma detected histologically in a clinically normal testis highlights the importance of routine histological examination at the time of testicular cryopreservation. The histological evaluation of gonadal tissue for potential malignant contamination before freezing should be mandatory, regardless of the malignancy diagnosis. Advances in sensitive molecular detection and in-vitro maturation are critically required to decrease future risk of disease recurrence in both solid and haematological malignancies.


Assuntos
Preservação da Fertilidade , Neuroblastoma , Masculino , Humanos , Testículo/patologia , Recidiva Local de Neoplasia/patologia , Criopreservação , Neuroblastoma/diagnóstico , Neuroblastoma/patologia , Biópsia
2.
Pediatr Blood Cancer ; 70(8): e28437, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34873822

RESUMO

Sexual health may be disrupted in adolescents and young adults (AYAs) both during and after cancer treatment, irrespective of whether they are diagnosed in childhood, adolescence, or young adulthood. Unfortunately, oncology providers often underestimate the relevance of psychosexual issues for AYAs and underprioritize sexual health throughout treatment and survivorship. The purpose of this narrative review is to provide information on (a) the etiology of psychosexual dysfunction in childhood, adolescent, and young adult cancer patients and young adult survivors of childhood cancer; (b) strategies for communicating and evaluating potential sexual health issues of AYA patients/survivors; and (c) guidance for the practicing pediatric oncologist on how to address sexual health concerns with patients.


Assuntos
Sobreviventes de Câncer , Neoplasias , Saúde Sexual , Criança , Adolescente , Adulto Jovem , Humanos , Adulto , Sobreviventes , Neoplasias/complicações , Neoplasias/terapia , Sobrevivência
3.
Pediatr Blood Cancer ; 70 Suppl 5: e30611, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37548483

RESUMO

Sexual health may be disrupted in adolescents and young adults (AYAs) both during and after cancer treatment, irrespective of whether they are diagnosed in childhood, adolescence, or young adulthood. Unfortunately, oncology providers often underestimate the relevance of psychosexual issues for AYAs and underprioritize sexual health throughout treatment and survivorship. The purpose of this narrative review is to provide information on (a) the etiology of psychosexual dysfunction in childhood, adolescent, and young adult cancer patients and young adult survivors of childhood cancer; (b) strategies for communicating and evaluating potential sexual health issues of AYA patients/survivors; and (c) guidance for the practicing pediatric oncologist on how to address sexual health concerns with patients.


Assuntos
Sobreviventes de Câncer , Neoplasias , Saúde Sexual , Criança , Adolescente , Adulto Jovem , Humanos , Adulto , Sobreviventes , Neoplasias/complicações , Neoplasias/terapia , Sobrevivência
4.
Ther Umsch ; 79(10): 519-525, 2022.
Artigo em Alemão | MEDLINE | ID: mdl-36415942

RESUMO

Contraception and Sexual Health Abstract. Reliable contraceptive methods allow a free development of sexuality without fear of unwanted pregnancies. They have contributed significantly to a more self-determined sexuality of both women and men at reproductive age. Hormonal contraceptives, which are available in different compositions and application forms, are highly effective, but are nevertheless used less and less for fear of physical and psychological side effects. Current study data regarding sexual health is heterogenous but reflects the clinical experience that hormonal contraceptives usually have no significant effect. However, some women report improved sexual experience, while others suffer from sexual dysfunction. Hormonal contraceptives act primarily on the hypothalamic-pituitary-ovarian axis to prevent folliculogenesis and ovulation. However, they have an effect on all tissues with sex steroid receptors, including peripheral tissues such as genitals, skin. But they also have an effect on neurobiological mechanisms (mainly in the hypothalamic region) essential for human sexual response. They can impact self and partnership perception, libido, and arousal. The observed influences can be explained via various mechanisms such as: lack of fear of unwanted pregnancies and accordingly more liberated sexuality, decrease in gynecological complaints, such as endometriosis-associated dyspareunia or dysmenorrhea, possible improvement of the individual body image (subjective perception of the physical self) and correspondingly improved self-confidence (e.g., by decreasing acne and hirsutism). Individualized contraceptive counselling, taking into account somatic and emotional aspects, is essential and can contribute to the promotion of sexual health and well-being. This review article summarizes the influence of hormonal contraceptive methods on sexual health and well-being and gives recommendations how to deal with contraception-induced sexual dysfunction.


Assuntos
Dispareunia , Saúde Sexual , Masculino , Gravidez , Feminino , Humanos , Anticoncepção , Comportamento Sexual , Anticoncepcionais Orais Hormonais/efeitos adversos
5.
J Assist Reprod Genet ; 38(10): 2735-2743, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34424432

RESUMO

PURPOSE: Increasing numbers of transgender adolescents are receiving gender-affirming treatments (GAT). Given GAT can impair reproductive function, clinical guidelines advise prior counselling regarding fertility preservation (FP). For transgender adults assigned male at birth, FP is usually achieved via a masturbatory sample and sperm cryopreservation. This is less straightforward in transgender adolescents, since they may not be developmentally ready to masturbate and/or masturbation may cause unacceptable gender dysphoria. Testicular biopsy represents an alternative method for sperm retrieval in these adolescents, but for those in early/mid puberty, it is difficult to predict whether sperm will be found. The purpose of this study was therefore to identify factors that predict successful sperm retrieval for cryopreservation via testicular biopsy. METHODS: A retrospective cohort study was undertaken at a tertiary-referral pediatric gender service. Subjects were included if they'd received a testicular biopsy in association with the commencement of GAT between 2010 and 2019. The primary outcome measure was successful sperm retrieval, and potential predictors included age, testicular volume and serum testosterone, LH and FSH levels. RESULTS: Of 25 subjects who received a biopsy prior to starting any GAT, 17 had successful sperm retrieval. While age, testosterone, LH and FSH levels showed minimal differences, testicular volume was significantly higher in those with successful sperm retrieval, and a threshold of ≥ 10 mL showed 92% sensitivity and 71% specificity in predicting successful retrieval. An additional 6 patients received a biopsy after starting puberty suppression and before commencement of oestrogen, and one of these individuals had sperm successfully retrieved despite > 2 years of regular puberty suppression. CONCLUSION: These findings suggest that testicular volume is most useful in predicting successful sperm retrieval following testicular biopsy in transgender adolescents and are likely to be of relevance to other young people undertaking FP, including those with cancer.


Assuntos
Criopreservação/métodos , Preservação da Fertilidade/métodos , Recuperação Espermática/estatística & dados numéricos , Testículo/cirurgia , Pessoas Transgênero/estatística & dados numéricos , Adolescente , Biópsia , Humanos , Masculino , Estudos Retrospectivos
6.
J Assist Reprod Genet ; 36(10): 2079-2086, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31463874

RESUMO

PURPOSE: The DNA fragmentation in sperm is associated with reduced outcome in assisted reproduction. Using YoPro1 as the staining dye and flow cytometry and sorting (FACS), the number of spermatozoa with DNA fragmentation can be lowered to 5%. Can the cumulative outcome of ICSI be improved using FACS? METHODS: A prospective, randomized, double-blind clinical trial was conducted in 104 infertile couples with male infertility based on abnormal conventional semen analysis results. Cumulative ongoing pregnancy rate was the primary outcome parameter. In 52 cases, semen was processed for ICSI using swim-up. In another 52 cases, spermatozoa with fragmented DNA were removed with FACS. RESULTS: The cumulative pregnancy rate at 12 weeks of gestation (51.9% versus 46.2%) and live birth rate (42.3% versus 34.6%) were higher and the miscarriage rate was lower (27.8% versus 35.3%) after FACS-sorting as compared with swim-up. An interim analysis scheduled before initiation of the study after 100 cases demonstrated that the aim of a 20% gain in pregnancy rate could not be achieved. For that reason, the prospective study was stopped prematurely. CONCLUSIONS: A trend towards consistently better results was achieved by removing spermatozoa with fragmented DNA. The fragmentation of the DNA in sperm is the end stage of apoptosis. Sorting of spermatozoa may be improved by selecting parameters of processes active more upstream of apoptosis, such as chromatin decondensation. TRIAL REGISTRATION: NCT02166567 . June 14, 2014.


Assuntos
Fertilização in vitro , Infertilidade Masculina/genética , Análise do Sêmen/métodos , Espermatozoides/ultraestrutura , Aborto Espontâneo/epidemiologia , Adulto , Coeficiente de Natalidade , Cromatina/genética , Fragmentação do DNA , Feminino , Citometria de Fluxo/métodos , Humanos , Infertilidade Masculina/patologia , Masculino , Gravidez , Taxa de Gravidez , Injeções de Esperma Intracitoplásmicas/métodos , Espermatozoides/patologia
7.
J Clin Endocrinol Metab ; 107(1): 241-257, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34476487

RESUMO

Internationally, increasing numbers of children and adolescents with gender dysphoria are presenting for care. In response, gender-affirming therapeutic interventions that seek to align bodily characteristics with an individual's gender identity are more commonly being used. Depending on a young person's circumstances and goals, hormonal interventions may aim to achieve full pubertal suppression, modulation of endogenous pubertal sex hormone effects, and/or development of secondary sex characteristics congruent with their affirmed gender. This is a relatively novel therapeutic area and, although short-term outcomes are encouraging, longer term data from prospective longitudinal adolescent cohorts are still lacking, which may create clinical and ethical decision-making challenges. Here, we review current treatment options, reported outcomes, and clinical challenges in the pharmacological management of trans and gender-diverse adolescents.


Assuntos
Disforia de Gênero/tratamento farmacológico , Terapia de Reposição Hormonal/métodos , Procedimentos de Readequação Sexual/métodos , Adolescente , Criança , Feminino , Disforia de Gênero/diagnóstico , Disforia de Gênero/psicologia , Humanos , Masculino , Pessoas Transgênero/psicologia , Resultado do Tratamento
8.
Biochem Biophys Res Commun ; 334(2): 721-8, 2005 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-16036133

RESUMO

Mutations in the human cationic trypsinogen are associated with hereditary pancreatitis. The cDNA coding for human cationic trypsinogen was subcloned into the expression vector pcDNA3. The mutations R122H, N29I, A16V, D22G, and K23R were introduced by site directed mutagenesis. We constructed an expression vector coding for active trypsin by subcloning the cDNA of trypsin lacking the coding region for the trypsin activating peptide behind an appropriate signal peptide. Expression of protein was verified by Western blot and measurement of enzymatic activity. AR4-2J cells were transiently transfected with the different expression vectors and cell viability and intracellular caspase-3 activity were quantified. In contrast to wild-type trypsinogen, expression of active trypsin and mutated trypsinogens reduced cell viability of AR4-2J cells. Expression of trypsin and R122H trypsinogen induced caspase-3 activity. Acinar cells might react to intracellular trypsin activity by triggering apoptosis.


Assuntos
Apoptose , Sobrevivência Celular , Neoplasias Pancreáticas/metabolismo , Tripsina/metabolismo , Tripsinogênio/metabolismo , Animais , Linhagem Celular Tumoral , Mutagênese Sítio-Dirigida , Neoplasias Pancreáticas/genética , Ratos , Proteínas Recombinantes/metabolismo
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