RESUMO
Hemochromatosis (HC) is characterized by the progressive accumulation of iron in the body, resulting in organ damage. Endocrine complications are particularly common, especially when the condition manifests in childhood or adolescence, when HC can adversely affect linear growth or pubertal development, with significant repercussions on quality of life even into adulthood. Therefore, a timely and accurate diagnosis of these disorders is mandatory, but sometimes complex for hematologists without endocrinological support. This is a narrative review focused on puberty and growth disorders during infancy and adolescence aiming to offer guidance for diagnosis, treatment, and proper follow-up. Additionally, it aims to highlight gaps in the existing literature and emphasizes the importance of collaboration among specialists, which is essential in the era of precision medicine.
Assuntos
Transtornos do Crescimento , Sobrecarga de Ferro , Humanos , Adolescente , Criança , Sobrecarga de Ferro/etiologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/fisiopatologia , Masculino , Hemocromatose/diagnóstico , Hemocromatose/terapia , Feminino , Transtornos Gonadais/etiologia , Puberdade/fisiologia , Pré-EscolarRESUMO
It is well known that both type 1 and type 2 diabetes mellitus (DM) are related to increased risk for cardiovascular (CV) and chronic kidney disease (CKD). However, besides these prominently presented complications, DM has also been associated with reproductive dysfunctions. It seems that these disorders are met in up to 40% of women with DM and consist of delayed menarche, all types of menstrual disorders, such as amenorrhea, oligomenorrhea, menstrual irregularity, as well as menorrhagia, infertility, characteristics of polycystic ovary syndrome (PCOS) and early (or rarely late) menopause. In type 1 DM (T1DM), insulin treatment, although it has reduced the rates of insulinopenic-induced hypogonadotropic hypogonadism, an entity commonly presented in many women with the disease in the past decades, when it is used in excess it can also promote hyperandrogenism. Regarding type 2 DM (T2DM), insulin resistance (IR) and hyperinsulinemia have mainly been implicated in the pathogenesis of reproductive dysfunctions, as insulin can act as gonadotropin on the theca cells of the ovary and can lead to hyperandrogenism and inhibition of proper ovulation. This review aims to detail the reproductive dysfunctions associated with DM and provide scientific data to enlighten the underlying pathogenetic mechanisms.
Assuntos
Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Humanos , Feminino , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 1/complicações , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/fisiopatologia , Transtornos Gonadais/etiologia , Distúrbios Menstruais/complicações , Resistência à Insulina/fisiologiaRESUMO
Aims: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its "classic" form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. Gonadal dysfunction (GD) has been described mainly in adults with variable prevalence and referred to as a minor clinical feature. This is the first case series investigating gonadal function in a small cohort of paediatric patients affected by WFS1-SD. Methods: Gonadal function was investigated in eight patients (3 male and 5 female) between 3 and 16 years of age. Seven patients have been diagnosed with classic WFS1-SD and one with non-classic WFS1-SD. Gonadotropin and sex hormone levels were monitored, as well as markers of gonadal reserve (inhibin-B and anti-Mullerian hormone). Pubertal progression was assessed according to Tanner staging. Results: Primary hypogonadism was diagnosed in 50% of patients (n=4), more specifically 67% (n=2) of males and 40% of females (n=2). Pubertal delay was observed in one female patient. These data confirm that gonadal dysfunction may be a frequent and underdiagnosed clinical feature in WFS1-SD. Conclusions: GD may represent a frequent and earlier than previously described feature in WFS1-SD with repercussions on morbidity and quality of life. Consequently, we suggest that GD should be included amongst clinical diagnostic criteria for WFS1-SD, as has already been proposed for urinary dysfunction. Considering the heterogeneous and elusive presentation of WFS1-SD, this clinical feature may assist in an earlier diagnosis and timely follow-up and care of treatable associated diseases (i.e. insulin and sex hormone replacement) in these young patients.
Assuntos
Diabetes Mellitus Tipo 1 , Transtornos Gonadais , Síndrome de Wolfram , Adulto , Humanos , Feminino , Masculino , Criança , Síndrome de Wolfram/complicações , Síndrome de Wolfram/diagnóstico , Qualidade de Vida , GônadasRESUMO
Male gonadal dysfunction is a frequent late effect after pediatric hematopoietic stem cell transplantation (HSCT) that can lead to disturbances in pubertal development, sexual dysfunction, and infertility. However, no systematic review exists regarding prevalence and risk factors in relation to different treatment regimens. We aimed to systematically evaluate the current evidence regarding the prevalence of male gonadal dysfunction after pediatric HSCT, related risk factors, and the diagnostic value of surrogate markers of spermatogenesis in this patient group. We searched PubMed and Embase using a combination of text words and subject terms. The eligibility screening was conducted using predefined criteria. Data were extracted corresponding to the Leydig cell compartment involved in testosterone production and the germ cell compartment involved in spermatogenesis, respectively. Subsequently, data synthesis was performed. Of 2369 identified records, 25 studies were eligible. The studies were heterogeneous in terms of included diagnoses, gonadotoxic therapy, follow-up time, and definitions of gonadal dysfunction. The data synthesis revealed a preserved Leydig cell function in patients treated with non-total body irradiation (TBI) regimens, whereas the evidence regarding the impact of TBI conditioning on Leydig cell function was conflicting. Based on surrogate markers of spermatogenesis and only limited data on semen quality, the germ cell compartment was affected in half of the patients treated with non-TBI regimens and in nearly all patients treated with TBI conditioning. Testicular irradiation as part of front-line therapy before referral to HSCT led to complete Leydig cell failure and germ cell failure. Evidence regarding the impact of diagnosis, pubertal stage at HSCT, and chronic graft-versus-host disease is limited, as is the evidence of the diagnostic value of surrogate markers of spermatogenesis. Testicular irradiation as part of front-line therapy and TBI conditioning are the main risk factors associated with male gonadal dysfunction after pediatric HSCT; however, impaired spermatogenesis is also observed in half of the patients treated with non-TBI regimens. Methodological shortcomings limit existing evidence, and future studies should include semen quality analyses, follow-up into late adulthood, and evaluation of the cumulative exposure to gonadotoxic therapy.
Assuntos
Transtornos Gonadais , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Adulto , Criança , Transtornos Gonadais/epidemiologia , Doença Enxerto-Hospedeiro/epidemiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Masculino , Análise do Sêmen , Condicionamento Pré-Transplante/efeitos adversos , Irradiação Corporal Total/efeitos adversosRESUMO
Tribulus terrestris saponins (TTS) have been longley used as an overall tonic and recent studies showed they influence inflammatory conditions. We examined the ameliorative effect of a commercial formula of a saponin-rich extract of TT in a model of dietary obesity in female rats focusing on their ability to control the inflammatory burden, insulin resistance (IR), adipokine expression and the related reproductive system pathologies. Female rats were fed with high fat diet (HFD) for 14 weeks to launch diet-induced obesity; they were assigned as: the obese control female rats (OFR) which received no treatment and TTS (5 and 10 mg/kg/day) treated rats; they were compared to a normal rat group. We determined the IR index, serum/tissue inflammatory cytokines, and adipose tissue adipokine expression and examined the secondary ovarian pathologies. Body weight gain, serum triglycerides and IR (>5-fold) in the OFR group were greater than the normal group; TTS lessened these parameters compared with the OFR group. TTS, at 10 mg/kg dose, ameliorated mRNA expression of leptin and visfatin genes in addition to serum inflammatory cytokine levels. Moreover, TTS corrected the hyperprolactinemia and other hormonal disturbances and ameliorated the ovarian pathologies. This study highlighted that the anti-inflammatory properties of TTS helped in alleviation of IR and body weight gain in OFR. Upon correction of obesity manifestations, the gonadal hormone dysregulations and ovarian pathologies were subsequently ameliorated. We can consider TTS as a promising candidate that may alleviate the inflammatory burden, IR and adipokine expression in obesity and hence prevent the secondary gonadal complications in female subjects if appropriate clinical studies are available.
Assuntos
Adipocinas/metabolismo , Transtornos Gonadais/patologia , Resistência à Insulina/fisiologia , Obesidade/patologia , Extratos Vegetais/farmacocinética , Tribulus , Animais , Peso Corporal/efeitos dos fármacos , Citocinas/efeitos dos fármacos , Dieta Hiperlipídica , Modelos Animais de Doenças , Feminino , Hiperprolactinemia/patologia , Mediadores da Inflamação/metabolismo , Extratos Vegetais/farmacologia , Ratos , Ratos Wistar , Saponinas , Triglicerídeos/sangue , Aumento de Peso/efeitos dos fármacosRESUMO
The novel SARS-CoV-2 has spread to virtually all countries of the world infecting millions of people, the medical burden of this disease obviously being enormous. The gonads of both sexes are among the organs that may be affected by COVID-19 and/or may affect the severity of the disease. The clinical spectrum of SARS-CoV-2 infection clearly differs between genders. The current evidence indicates that the underlying mechanism of such an interaction could be associated with genetic, hormonal, and immunological differences, as well as with gender differences in such habits as smoking and alcohol use. On the other hand, there are controversies as to how and to what extent the gonads could be affected by COVID-19, possibly impacting upon sex steroids, fertility, and other functions. This review underlines the possible mechanisms that could clarify these questions concerning COVID-19 and the gonads. In addition, reference is made to potential new treatment modalities presently under investigation, these supported by accumulating data published in the recent literature.
Assuntos
COVID-19/epidemiologia , Transtornos Gonadais/etiologia , Gônadas , Pandemias , SARS-CoV-2 , COVID-19/complicações , Feminino , Saúde Global , Transtornos Gonadais/epidemiologia , Humanos , Incidência , Masculino , Fatores SexuaisRESUMO
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal development (normally timed testicular growth, but delayed rise of serum testosterone), macroorchidism, increased body mass index (BMI), and decreased attentional control. In addition, a subset of patients show prolactin deficiency, transient partial growth hormone deficiency in childhood and increased growth hormone secretion in adulthood. We present a family in which the proband was diagnosed with CeH and low serum prolactin. Severe weight gain started at two years old, with a BMI of 42.3 at 13.9 years. Testicular enlargement (5-6 mL, 3.8-4.3 standard deviation score) started aged three years. A pathogenic variant was found in the IGSF1 gene: c.3411_3412del, p.(Tyr1137*). His brother was referred for short stature at age 13 years and was diagnosed with CeH, normal serum prolactin and IGF-1, and disharmonious puberty. In four male relatives (the proband's brother and three cousins) with the variant (one adult), free thyroxine (fT4) was below the lower limit of the reference range in two, and just above this limit in the other two. Three were overweight or obese, adolescents had disharmonious pubertal development and the adult had profound macroorchidism. In conclusion, male hemizygous carriers of a pathogenic IGSF1 variant can present with fT4 concentration above the lower limit of the reference range while severe early onset obesity or premature testicular growth are part of the phenotypic spectrum.
Assuntos
Hipotireoidismo Congênito , Transtornos Gonadais , Imunoglobulinas , Proteínas de Membrana , Obesidade , Prolactina/sangue , Testículo/crescimento & desenvolvimento , Tiroxina/sangue , Adolescente , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/genética , Transtornos Gonadais/sangue , Transtornos Gonadais/genética , Humanos , Imunoglobulinas/deficiência , Imunoglobulinas/genética , Masculino , Proteínas de Membrana/deficiência , Proteínas de Membrana/genética , Obesidade/sangue , Obesidade/genética , Obesidade Mórbida/sangue , Obesidade Mórbida/genética , Obesidade Infantil/sangue , Obesidade Infantil/genética , Linhagem , SíndromeRESUMO
BACKGROUND: Potentially gonadotoxic protocols are currently used for the treatment of childhood hematologic malignancies. This study aims to evaluate the prevalence of gonadal dysfunction and the most important associated risk factors in a cohort of hematologic malignancy survivors. PROCEDURE: We considered all patients referred to our long-term follow-up clinic for childhood cancer survivors, between November 2001 and December 2017. Inclusion criteria were: (a) previous diagnosis of hematologic malignancy; (b) age at hematologic malignancy diagnosis < 18 years; (c) at least five years after the end of anticancer treatments; (d) at least one evaluation of gonadal function after the 18th birthday. Patients diagnosed before January 1, 1990, were excluded. RESULTS: Three hundred twenty-seven survivors (males = 196) were included. Isolated spermatogenesis damage was found in 58/196 (29.6%) of males, whereas 18/196 (9.2%) had Leydig cell failure. In females, 35/131 (26.7%) experienced premature ovarian insufficiency. In both sexes, abdominopelvic irradiation and hematopoietic stem cell transplantation were strongly associated with the risk of gonadal dysfunction. For every 1000 mg/m2 increase in cyclophosphamide-equivalent dose exposure, the risk of spermatogenesis damage increased 1.52-fold and that of Leydig cell failure increased 1.34-fold, whereas the risk of premature ovarian insufficiency increased 1.80-fold. About 30% of those males who developed Leydig cell failure did so more than five years after the end of treatments. CONCLUSIONS: Gonadal dysfunction is still a significant late effect of therapies for pediatric hematologic malignancies. In males, the reevaluation of Leydig cell function may be useful even several years after the exposure to gonadotoxic treatments.
Assuntos
Sobreviventes de Câncer/estatística & dados numéricos , Transtornos Gonadais/etiologia , Neoplasias Hematológicas/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Sobreviventes/estatística & dados numéricos , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Feminino , Seguimentos , Transtornos Gonadais/epidemiologia , Transtornos Gonadais/patologia , Neoplasias Hematológicas/patologia , Humanos , Incidência , Lactente , Itália/epidemiologia , Masculino , Prognóstico , Fatores de Risco , Adulto JovemRESUMO
INTRODUCTION: Telemedicine (TM) will play a significant role in contemporary practices that diagnose and treat sexual medicine patients. Although only a small percentage of urologists, sex therapists, social workers, psychiatrists, gynecologists, and urogynecologists currently use TM, many more practices are going to embrace this technology in the near future. This article will discuss the process for implementing TM in sexual medicine with minimal time, energy, effort, and expense. We will also examine compliance and legal issues associated with implementing TM in practice and how to code for TM services based on regulatory guidelines. OBJECTIVES: The purpose of this article is to improve the understanding of the concept and the trends of using TM to provide care for sexual medicine patients. METHODS: The study involves a literature review focussing on the new Centers for Medicare and Medicaid Services guidelines including the relaxation of the Health Insurance Portability and Accountability Act requirements. RESULTS: COVID-19 has changed the doctor-patient relationship especially in the area of sexual medicine. There are many patients with sexual medicine conditions that are amenable to the use of TM methods. CONCLUSION: Virtual visit utilizing audiovisual telecommunications is a very attractive approach for sexual medicine patients. Many patients with sexual medicine problems are no longer going to accept the antiquated method of healthcare involving making an appointment, visiting a brick-and-mortar facility, and the requirement of having a physical examination. The new normal will be communicating with patients by utilizing TM. Dooley AB, Houssaye N de la, Baum N. Use of Telemedicine for Sexual Medicine Patients. Sex Med Rev 2020;8:507-517.
Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Doenças Urogenitais Femininas/terapia , Transtornos Gonadais/terapia , Doenças Urogenitais Masculinas/terapia , Pneumonia Viral/epidemiologia , Telemedicina/organização & administração , COVID-19 , Feminino , Humanos , Masculino , Pandemias , Relações Médico-Paciente , SARS-CoV-2RESUMO
Obesity is an ever growing pandemic and a prevalent problem among men of reproductive age that can both cause and exacerbate male-factor infertility by means of endocrine abnormalities, associated comorbidities, and direct effects on the precision and throughput of spermatogenesis. Robust epidemiologic, clinical, genetic, epigenetic, and preclinical data support these findings. Clinical studies on the impact of medically induced weight loss on serum testosterone concentrations and spermatogenesis is promising but may show differential and unsustainable results. In contrast, literature has demonstrated that weight loss after bariatric surgery is correlated with an increase in serum testosterone concentrations that is superior than that obtained with only lifestyle modifications, supporting a further metabolic benefit from surgery that may be specific to the male reproductive system. The data on sperm and semen parameters is controversial to date. Emerging evidence in the burgeoning field of genetics and epigenetics has demonstrated that paternal obesity can affect offspring metabolic and reproductive phenotypes by means of epigenetic reprogramming of spermatogonial stem cells. Understanding the impact of this reprogramming is critical to a comprehensive view of the impact of obesity on subsequent generations. Furthermore, conveying the potential impact of these lifestyle changes on future progeny can serve as a powerful tool for obese men to modify their behavior. Healthcare professionals treating male infertility and obesity need to adapt their practice to assimilate these new findings to better counsel men about the importance of paternal preconception health and the impact of novel non-medical therapeutic interventions. Herein, we summarize the pathophysiology of obesity on the male reproductive system and emerging evidence regarding the potential role of bariatric surgery as treatment of male obesity-associated gonadal dysfunction.
Assuntos
Cirurgia Bariátrica/métodos , Transtornos Gonadais/prevenção & controle , Obesidade/complicações , Transtornos Gonadais/etiologia , Transtornos Gonadais/patologia , Transtornos Gonadais/cirurgia , Humanos , MasculinoRESUMO
Evaluation of the child with abnormal pubertal development can be challenging for the primary care provider. Understanding the factors associated with timing of pubertal onset and the normal sequence of pubertal changes is useful in evaluation of children with puberty disorders. A thorough workup includes assessment of growth rate, Tanner staging, and rate of pubertal progression, in addition to an extensive history and physical examination to identify signs and symptoms of disorders associated with abnormal pubertal timing. Initial diagnostic studies will most often include a bone age, levels of gonadotropins, and levels of estradiol (for girls) or testosterone (for boys).
Assuntos
Transtornos Gonadais/diagnóstico , Transtornos Gonadais/terapia , Atenção Primária à Saúde/organização & administração , Criança , Feminino , Transtornos Gonadais/psicologia , Hormônios Esteroides Gonadais/fisiologia , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/terapia , Masculino , Puberdade Tardia/diagnóstico , Puberdade Tardia/terapia , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapiaRESUMO
Klinefelter syndrome (KS) is the most frequent sex chromosomal aneuploidy. The karyotype 47,XXY originates from either paternal or maternal meiotic nondisjunction during gametogenesis. KS males are very likely to exhibit marked gonadal dysfunctions, presenting both in severely attenuated spermatogenesis as well as hypergonadotropic hypogonadism. In addition, neurocognitive and psychosocial impairments, as well as cardiovascular, metabolic and bone disorders are often found in KS and might explain for an increased morbidity/mortality. All conditions in KS are likely to be induced by both gene overdosage effects resulting from supernumerary X-chromosomal genes as well as testosterone deficiency. Notwithstanding, the clinical features are highly variable between KS men. Symptoms can become obvious at infancy, childhood, or adolescence. However, the majority of KS subjects is diagnosed during adulthood. KS adolescents require specific attention regarding pubertal development, in order to exploit their remaining fertility potential and allow for timely and tailored testosterone replacement. The chances for sperm retrieval might decline with age and could be hampered by testosterone replacement; therefore, cryostorage of spermatozoa is an option during adolescence, before the decompensation of endocrine and exocrine testicular functions becomes more overt. Sperm from semen or surgically retrieved, in combination with intracytoplasmic sperm injection enables KS males to become biological fathers of healthy children. The aim of this article is to present the current knowledge on KS, to guide clinical care and to highlight research needs.
Assuntos
Cromossomos Humanos X/genética , Transtornos Gonadais/terapia , Síndrome de Klinefelter/genética , Transtornos dos Cromossomos Sexuais/terapia , Adolescente , Adulto , Criança , Pré-Escolar , Transtornos Gonadais/genética , Transtornos Gonadais/patologia , Gônadas/crescimento & desenvolvimento , Gônadas/patologia , Humanos , Síndrome de Klinefelter/patologia , Masculino , Transtornos dos Cromossomos Sexuais/genética , Transtornos dos Cromossomos Sexuais/patologia , Cariótipo XYY/genética , Cariótipo XYY/patologia , Adulto JovemRESUMO
Nutcracker syndrome (NCS) refers to compression of the left renal vein (LRV) between the abdominal aorta and the superior mesenteric artery (SMA). The clinical presentation of NCS includes hematuria, abdominal and left flank pain, gonadal varices, and varicocele formation. Theoretically, thrombosis can occur in the LRV in patients with NCS. However, an isolated solitary left renal vein thrombus (LRVT) complicating NCS is rare. In addition, the clinical features of an LRVT complicating NCS remain unclear. We describe a 43-year-old woman presenting with an asymptomatic LRVT complicating NCS. She was referred to our hospital for investigation of dysfunctional uterine bleeding, and detailed examination revealed endometrial cancer. Computed tomography angiography (CTA) and Doppler ultrasonography revealed compression of the LRV between the aorta and the SMA, as well as an LRVT. CTA performed 4 months after the administration of an anticoagulant showed complete disappearance of the LRVT. We have also included a review of published reports describing LRVT complicating NCS and discussed the clinical features of such a presentation.
Assuntos
Neoplasias do Endométrio/patologia , Síndrome do Quebra-Nozes/complicações , Síndrome do Quebra-Nozes/patologia , Trombose/complicações , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Adulto , Anticoagulantes/uso terapêutico , Aorta Abdominal/diagnóstico por imagem , Aorta Abdominal/fisiopatologia , Angiografia por Tomografia Computadorizada/métodos , Neoplasias do Endométrio/diagnóstico , Feminino , Dor no Flanco/diagnóstico , Dor no Flanco/etiologia , Transtornos Gonadais/patologia , Hematúria/diagnóstico , Hematúria/etiologia , Humanos , Masculino , Artéria Mesentérica Superior/diagnóstico por imagem , Artéria Mesentérica Superior/fisiopatologia , Metrorragia/etiologia , Síndrome do Quebra-Nozes/diagnóstico , Veias Renais/patologia , Trombose/diagnóstico , Trombose/tratamento farmacológico , Resultado do Tratamento , Ultrassonografia Doppler/métodos , Varicocele/diagnóstico , Varicocele/etiologia , Varizes/diagnóstico , Varizes/etiologiaRESUMO
OBJECTIVE: To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta. METHODS: Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and whole genome amplification (WGA) was performed for single sperms isolated from the sample. RESULTS: WES has identified a heterozygous c.1378G>A (p.G460S) variant of the COL1A2 gene in the fetus, which was predicted to be pathogenic but not detected in peripheral blood samples of both husband and wife. The heterozygotic variant was detected in semen DNA from the husband. Among 15 spermatozoa, 4 were found to harbor the variant. CONCLUSION: The fetus was diagnosed with osteogenesis imperfecta, and the gonadal mosaicism probably accounted for the repeated abnormal pregnancies. Possibility of gonadal mosaicism should be considered when counseling couples with normal phenotype and genotype but recurrent abnormal pregnancies and/or births of children with similar phenotypes and genetic variants.
Assuntos
Colágeno Tipo I , Transtornos Gonadais , Mosaicismo , Osteogênese Imperfeita , Adulto , Criança , Colágeno Tipo I/genética , Feminino , Feto , Transtornos Gonadais/genética , Humanos , Masculino , Mutação , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genética , Gravidez , Diagnóstico Pré-Natal , Sequenciamento do ExomaRESUMO
Purpose: To determine the relationship between pubertal development and postpubertal gonadal function in childhood cancer survivors. Methods: Childhood cancer survivors (≥10 years of age) who received follow-up care in a pediatric oncology group in an academic medical center during the period from January 1, 1985, to July 1, 2010 were included in this case series. Their pubertal development and gonadal function were evaluated. Results: The cohort consists of 39 males (age 10-21 years) and 35 females (age 10-29 years) with a variety of cancer diagnosis and treatments. The average age at diagnosis was â¼7.5 years. The average age at the time of the study was 16 and 16.7 years in males and females, respectively, representing a mean follow-up interval of â¼9 years. Despite the fact that 60% of survivors received cyclophosphamide equivalents and 16.2% received cranial radiation or brain tumor resection, the majority of survivors (68%) presented with both normal puberty and normal gonadal functions at the time of follow-up. In 27% of survivors, puberty development did not predict gonadal function in early adulthood: 20% of survivors had normal puberty, but abnormal gonadal function; 7% of survivors had abnormal puberty, but gonadal function remained normal as young adults. Conclusions: Most childhood cancer survivors had normal puberty and gonadal function despite a variety of cancer treatment modalities. However, normal puberty did not predict normal gonadal function later in life in many survivors. Therefore, close follow-up with gonadal function in adolescent and early adulthood years is essential.
Assuntos
Sobreviventes de Câncer/psicologia , Transtornos Gonadais/complicações , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Puberdade , Adulto JovemRESUMO
The anti-Müllerian hormone (AMH) is a glycoprotein secreted by Sertoli cells in males and granulosa cells in females. It has first been determined in blood serum of dogs and cats by Place et al. in 2011 with the use of a human-based ELISA test. Meanwhile, different immunoassays have been validated for AMH determination in animals and a variety of studies have demonstrated the clinical significance of AMH. This review summarizes the current knowledge about AMH in dogs and cats and describes future opportunities for its diagnostic use.
Assuntos
Hormônio Antimülleriano/sangue , Fenômenos Reprodutivos Fisiológicos , Animais , Doenças do Gato/sangue , Doenças do Gato/diagnóstico , Gatos , Doenças do Cão/sangue , Doenças do Cão/diagnóstico , Cães , Feminino , Transtornos Gonadais/sangue , Transtornos Gonadais/diagnóstico , MasculinoRESUMO
BACKGROUND: Opioid abuse is a public health crisis. As opioid misuse worsens, efforts are being made to increase access to medication-assisted treatments. Methadone is a medication-assisted treatment used to treat opioid dependence and chronic pain. While methadone is beneficial in the treatment of opiate abuse and chronic pain, side effects of the medication include hormonal and sexual function changes. The purpose of this report is to review the effects of methadone on the hypothalamic pituitary gonadal axis hormones and sexual functioning in males and females. METHODS: A search of PubMed was conducted using pre-defined criteria, resulting in the evaluation of 295 articles. A total of 72 articles, including 52 human studies and 20 animal studies, met the selection criteria and were reviewed. The included studies examined the effects of methadone on the hypothalamic pituitary gonadal axis and/or sexual function. RESULTS: There was evidence of methadone-induced hormonal changes, disruptions in the hypothalamic pituitary gonadal axis, and sexual dysfunction, although there was some variability in the results of the reviewed studies. Differences in methadone dose and length of exposure to treatment appears to influence the variability in the results. Much of the literature examines the effects of methadone in males, with very limited research examining the effects in females. CONCLUSIONS: Despite its effectiveness for opiate abuse and chronic pain treatment, methadone has disruptive effects on the hypothalamic pituitary gonadal axis and sexual function. Further research is warranted to better define potential methadone-induced endocrine consequences and to further examine the effects of methadone in females.