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1.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 47(2): 65-68, abr.-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-191317

RESUMO

La atresia vaginal distal es una anomalía infrecuente que deriva de la falta de desarrollo de los 2/3 distales de la vagina a partir del seno urogenital. Presentamos una paciente de 14 años con amenorrea primaria, abdominalgia, masa palpable en hipogastrio y ausencia de orificio vaginal. La ecografía abdominal y la RMN evidenciaron hematometrocolpos secundario a agenesia vaginal distal, con una distancia al periné de 5cm, sin otras malformaciones. Se realiza un drenaje vaginal transuretral y descenso vía perineal asistido por laparoscopia. Evolución favorable con calibre vaginal adecuado y normalización de la menstruación a los 6 meses


Distal vaginal atresia is an uncommon disorder that results from the lack of development of the distal 2/3 of the vagina from the urogenital sinus. The case is presented on a 14 year-old patient with primary amenorrhoea, abdominal pain, a palpable mass in the hypogastrium, and an absent vaginal opening. The abdominal ultrasound and magnetic resonance imaging showed haematometrocolpos secondary to distal vaginal agenesis, with a distance of 5cm to the perineum, with no other malformations. A transurethral vaginal drainage and laparoscopic assisted pull-through were performed. Her follow-up was favourable with an adequate vaginal calibre and normal menstruation after 6 months


Assuntos
Humanos , Feminino , Adolescente , Colo do Útero/anormalidades , Colo do Útero/cirurgia , Vagina/anormalidades , Laparoscopia , Hematometra/diagnóstico por imagem , Amenorreia/complicações , Dor Abdominal/etiologia , Hematocolpia/diagnóstico por imagem , Hematocolpia/cirurgia , Sonda , Períneo/anormalidades , Diagnóstico Diferencial
2.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 47(2): 65-68, abr.-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-ET2-5382

RESUMO

La atresia vaginal distal es una anomalía infrecuente que deriva de la falta de desarrollo de los 2/3 distales de la vagina a partir del seno urogenital. Presentamos una paciente de 14 años con amenorrea primaria, abdominalgia, masa palpable en hipogastrio y ausencia de orificio vaginal. La ecografía abdominal y la RMN evidenciaron hematometrocolpos secundario a agenesia vaginal distal, con una distancia al periné de 5cm, sin otras malformaciones. Se realiza un drenaje vaginal transuretral y descenso vía perineal asistido por laparoscopia. Evolución favorable con calibre vaginal adecuado y normalización de la menstruación a los 6 meses


Distal vaginal atresia is an uncommon disorder that results from the lack of development of the distal 2/3 of the vagina from the urogenital sinus. The case is presented on a 14 year-old patient with primary amenorrhoea, abdominal pain, a palpable mass in the hypogastrium, and an absent vaginal opening. The abdominal ultrasound and magnetic resonance imaging showed haematometrocolpos secondary to distal vaginal agenesis, with a distance of 5cm to the perineum, with no other malformations. A transurethral vaginal drainage and laparoscopic assisted pull-through were performed. Her follow-up was favourable with an adequate vaginal calibre and normal menstruation after 6 months


Assuntos
Humanos , Feminino , Adolescente , Colo do Útero/anormalidades , Colo do Útero/cirurgia , Vagina/anormalidades , Laparoscopia , Hematometra/diagnóstico por imagem , Amenorreia/complicações , Dor Abdominal/etiologia , Hematocolpia/diagnóstico por imagem , Hematocolpia/cirurgia , Sonda , Períneo/anormalidades , Diagnóstico Diferencial
3.
J Int Soc Sports Nutr ; 17(1): 13, 2020 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-32131846

RESUMO

BACKGROUND: Low energy availability (LEA) is a medical condition observed in athletes, with a higher prevalence in aesthetic sports. For the first time, this study evaluated the relative prevalence of LEA in female elite athletes (ELA) and recreational athletes (REA) in aesthetic sports in China. METHODS: Female athletes from 6 sports (trampolining, rhythmic gymnastics, aerobics, dance sport, cheerleading and dance) were recruited, including ELA (n = 52; age = 20 ± 3) on Chinese national teams and REA (n = 114; Age = 20 ± 2) from Beijing Sport University. Participants completed 2 online questionnaires to assess LEA and eating disorder risk. These included the Low Energy Availability in Females Questionnaire (LEAF-Q), which provided information on injury history, gastrointestinal function and menstrual history, and the Eating Disorder Inventory-3 Referral Form (EDI-3 RF). For a sub-group of elite athletes (n = 14), body composition, bone mineral density, and blood serum were also quantified. RESULTS: A total of 41.6% of participants (n = 69) were at increased risk of LEA, and 57.2% of participants (n = 95) were classified as high in eating disorder risk. For ELA vs. REA, there was a significantly higher prevalence of LEA risk (55.8% vs. 35.1%; p = 0.012) and amenorrhea (53.8% vs. 13.3%; p < 0.001). Elite athletes at increased risk of LEA had significantly lower estradiol (p = 0.021) and whole-body BMD (p = 0.028). Pearson correlations indicated that the whole-body BMD (r = - 0.667, p = 0.009) correlated negatively with LEAF-Q score. CONCLUSIONS: Results of this study indicate that there is a risk of LEA in female Chinese athletes within aesthetic sports, and significantly higher prevalence of increased LEA risk observed in ELA than in REA. Chinese coaches and sports medicine staff working elite female athletes in aesthetic sports should develop strategies to reduce the prevalence of LEA.


Assuntos
Deficiência Energética Relativa no Esporte/epidemiologia , Fenômenos Fisiológicos da Nutrição Esportiva , Adolescente , Amenorreia , Grupo com Ancestrais do Continente Asiático , Atletas , Composição Corporal , Densidade Óssea , China , Estudos Transversais , Dança , Transtornos da Alimentação e da Ingestão de Alimentos , Feminino , Ginástica , Hormônios/sangue , Humanos , Prevalência , Fatores de Risco , Esportes , Inquéritos e Questionários , Adulto Jovem
4.
Medicine (Baltimore) ; 99(11): e19566, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32176115

RESUMO

Chemotherapy may cause ovarian toxicity and infertility. Cancer patients are usually overwhelmed, and focus exclusively on cancer diagnosis and may not pay attention to fertility-related issues. In this paper we look at the rate of amenorrhea and fertility counseling among such young patients.Premenopausal women with early-stage breast cancer treated with adjuvant or neoadjuvant chemotherapy were recruited. Amenorrhea was defined as absence of menstruation for ≥12 months after the completion of chemotherapy.A total of 94 patients met the eligibility criteria and were included in this analysis. Median age at diagnosis was 35.7 (range, 22-44) years. Seventy-nine (85.9%) respondents were counseled about amenorrhea and 37 (40.2%) were considering having children. Long-term amenorrhea was reported by 51 (54.3%) patients. The addition of taxanes to anthracyclines, in 2 different regimens, increased the risk of amenorrhea to 69.2% and 66.7% compared to 38.9% with anthracycline-alone, P < .0001. Longer duration of chemotherapy (≥24 weeks) might also be associated with higher rate of amenorrhea (67.7%) compared to 43.4% in those who had shorter duration (<24 weeks), P = .031.The addition of taxanes to anthracycline-based chemotherapy increased the risk of amenorrhea. However, shorter duration of chemotherapy, even with taxanes, may lower such risk. Our study highlights the importance of fertility counseling to improve fertility preservation rates. Given the importance of taxanes, shorter regimens are associated with lower amenorrhea rates and should be preferred over longer ones.


Assuntos
Amenorreia/induzido quimicamente , Antraciclinas/efeitos adversos , Antineoplásicos/efeitos adversos , Neoplasias da Mama/tratamento farmacológico , Preservação da Fertilidade , Taxoides/efeitos adversos , Adulto , Neoplasias da Mama/patologia , Quimioterapia Adjuvante/efeitos adversos , Aconselhamento , Feminino , Humanos , Jordânia , Estadiamento de Neoplasias , Estudos Retrospectivos , Adulto Jovem
6.
Gynecol Oncol ; 156(3): 647-653, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31952842

RESUMO

OBJECTIVE: Germline pathogenic variation in DICER1 underlies a tumor-predisposition disorder with increased risk for cervical embryonal rhabdomyosarcoma and ovarian sex-cord stromal tumors, particularly Sertoli-Leydig cell tumors. The gynecologic and reproductive health of these females has not yet been described. METHODS: All female subjects recruited from November 2011 to July 2018 participating in an epidemiologic study of families with pathogenic DICER1 germline variation were included in this cross-sectional analysis. Participant evaluation included obstetric-gynecologic history, physical examination, hormone testing, pelvic ultrasound and record review. RESULTS: Of 64 females aged 2-72 years, fifteen underwent treatment for pleuropulmonary blastoma as children and three were treated for cervical embryonal rhabdomyosarcoma. Of nine patients reporting a history of ovarian tumors, all presented with virilization or amenorrhea; eight occurred in adolescence. Post-pubertal females with no history of ovarian tumors experienced normal pubertal development, reported regular menstrual cycles, were fertile and underwent natural menopause at median age of 52 years. Thirty-two of 33 women who tried to conceive successfully delivered liveborn children. Of these 32, 10 experienced pregnancy-related thyroid enlargement resulting in thyroidectomy within one year of pregnancy; nine others had undergone pre-pregnancy thyroidectomy. CONCLUSION: In these DICER1-carrier females, DICER1-related gynecological tumors occurred during childhood or adolescence in some after which women generally experienced healthy reproductive lives. Individual education and screening for these tumors is warranted. The high rate of DICER1-related multinodular goiter resulting in pre- and post-pregnancy thyroidectomy underscores the importance of thyroid monitoring during pregnancy to ensure maternal and fetal wellbeing.


Assuntos
RNA Helicases DEAD-box/genética , Doenças dos Genitais Femininos/genética , Ribonuclease III/genética , Adolescente , Adulto , Idoso , Amenorreia/genética , Criança , Feminino , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Ovarianas/genética , Gravidez , Blastoma Pulmonar/genética , Saúde Reprodutiva , Rabdomiossarcoma Embrionário/genética , Neoplasias do Colo do Útero/genética , Adulto Jovem
7.
Scand J Med Sci Sports ; 30(1): 135-147, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31593622

RESUMO

INTRODUCTION: Competing in aesthetic sports increases the risk of low energy availability and associated health impairments. Fitness physique sport is a popular, but understudied aesthetic sport. We evaluated health and symptoms of relative energy deficiency in sport (RED-s) in female fitness athletes (FA) and female references (FR) during a competitive season. METHODS: Totally, 25 FA and 26 FR, mean (SD) age of 28.9 (5.7), were included. Assessments were at baseline (T1), 2-weeks pre-competition (T2), and 1-month post-competition (T3), by dual-energy x-ray absorptiometry scan, indirect calorimetry, diet registration, The Low Energy Availability in Females Questionnaire, The Beck Depression Inventory, and Eating Disorder Examination Questionnaire (EDE-Q). RESULTS: A history of eating disorders was reported by 35% FA and 12% FR. There were no between-group differences at T1, besides less mean (99% CI) fat mass (FM) of 3.1 kg (-0.4, 6.5) in FA (P = .02). At T2, FA had lower BW of 6.7 kg (-12.0, -1.3), fat mass of -9.0 kg (-12.5, -5.5), and resting heart rate of -8.0 beats per minute (-14.5, -1.5) compared to FR (P ≤ .006). FA reduced resting metabolic rate by -191 kcal (-11, -371) and increased symptoms of gastrointestinal dysfunction (GD) by 1.4 points (0.3, 2.5) and prevalence of amenorrhea from 8% to 24%, (P < .003). At T3, there was a between-group difference in fat mass, and a high number of FA with amenorrhea and GD. CONCLUSION: Manifestation of symptoms of RED-s, some with persistence one-month post-competition, raises concern for the health of FA and those complying with the fit body ideal.


Assuntos
Deficiência Energética Relativa no Esporte/diagnóstico , Absorciometria de Fóton , Adulto , Amenorreia , Atletas , Metabolismo Basal , Composição Corporal , Peso Corporal , Calorimetria Indireta , Comportamento Competitivo , Dieta , Transtornos da Alimentação e da Ingestão de Alimentos , Feminino , Frequência Cardíaca , Humanos , Noruega , Inquéritos e Questionários , Adulto Jovem
8.
Rev. chil. endocrinol. diabetes ; 13(2): 61-63, 2020. ilus
Artigo em Espanhol | LILACS | ID: biblio-1095286

RESUMO

El quiste de la bolsa de Rathke es una lesión epitelial benigna de la región selar, formada a partir de remanentes embrionarios. La mayoría de los casos son asintomáticos, aunque pudiera presentarse con cefalea, disfunción hipofisaria y trastornos visuales, muy infrecuentemente como apoplejía hipofisaria. Se presenta el caso de una paciente que, habiendo presentado amenorrea primaria, se le realiza el diagnóstico de quiste de la bolsa de Rathke con hiperprolactinemia, logrando menarquia luego del tratamiento con cabergolina.


Rathke's cyst is a benign epithelial lesion of the sellar region, formed from embryonic remnants. Most cases are asymptomatic although it could present with headache, pituitary dysfunction and visual disorders, very infrequently as pituitary stroke. We present the case of a patient who, having presented primary amenorrhea, is diagnosed with Rathke's cyst with hyperprolactinemia, achieving menarche after treatment with cabergoline.


Assuntos
Humanos , Feminino , Adolescente , Hiperprolactinemia/complicações , Cistos do Sistema Nervoso Central/complicações , Amenorreia/etiologia , Prolactina/uso terapêutico , Hiperprolactinemia/diagnóstico , Hiperprolactinemia/tratamento farmacológico , Imagem por Ressonância Magnética , Tomografia Computadorizada por Raios X , Cistos do Sistema Nervoso Central/diagnóstico , Cistos do Sistema Nervoso Central/tratamento farmacológico , Cabergolina/uso terapêutico
9.
BMJ Case Rep ; 12(12)2019 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-31852694

RESUMO

Hyperandrogenism is a relatively common clinical problem. However, severe hyperandrogenism causing virilisation is rare. A 27-year-old woman presented with generalised hirsutism, clitoromegaly, breast atrophy and secondary amenorrhoea. She had serum testosterone levels elevated to the adult male range. Administration of gonadotropin-releasing hormone (GnRH) analogue resulted in >50% suppression of serum testosterone which was suggestive of luteinising hormone-dependent ovarian hyperandrogenism. Imaging studies of abdomen and pelvis were normal, and ovarian venous sampling failed to show a gradient between the two sides. A presumptive diagnosis of ovarian hyperthecosis was, therefore, considered. Medical treatment with GnRH analogue and combined oral contraceptive pills was initiated to which an excellent clinical and biochemical response was noted. This case highlights a rare presentation of ovarian hyperthecosis in a young woman with severe hyperandrogenism mimicking a virilising neoplasm.


Assuntos
Anticoncepcionais Orais/administração & dosagem , Hiperandrogenismo/diagnóstico , Hiperandrogenismo/tratamento farmacológico , Leuprolida/administração & dosagem , Células Tecais/patologia , Adulto , Amenorreia/etiologia , Anticoncepcionais Orais/uso terapêutico , Feminino , Humanos , Hiperandrogenismo/complicações , Hiperplasia , Leuprolida/uso terapêutico , Testosterona/sangue , Resultado do Tratamento
10.
Rev. iberoam. fertil. reprod. hum ; 36(4): 3-12, oct.-dic. 2019. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-188040

RESUMO

Se reporta el caso de paciente de 26 años de edad de bajos recursos que acudió a consulta por dolor abdominal de 6 meses de evolución, progresivo, sin llegar a ser incapacitante; y amenorrea de 4 meses. US: tumoración de 20 cm de diámetro, bordes regulares, lisos, sin trabeculaciones ni excrescencias. Hipoestrogenismo y LH anormalmente elevada. No ascitis ni derrames. Quirúrgicamente se encontró tumoración de 20 cm con trabéculas gruesas, dependiente de ovario izquierdo con cápsula perforada (sin infiltración por células tumorales). Histopatología reportó tumor de cordones sexuales tipo fibroma con marcadores de inmunohistoquímica positivos para WT-1 e inhibina y negativos para CD99 y actina de músculo liso. Los fibromas ováricos con degeneración quística extensa son la excepción a la regla de que los componentes sólidos o trabéculas en una masa quística implican malignidad. Después de la cirugía, el estradiol y las gonadotropinas volvieron a niveles normales


The case is reported of a 26 year old patient with limited resources who visited a physician due to abdominal pain of 6 months evolution, progressive, without becoming disabling; and 4 months of amenorrhea. US: growth of 20 cm in diameter, with regular edges, smooth, without trabeculations or excrescences. Hypoestrogenism and abnormally high LH. No ascites or effusions. Surgery found a growth of 20 cm with thick trabeculae, dependent on left ovary with perforated capsule (without infiltration by tumour cells). Histopathology reported a fibroma-type sex cord tumour with positive immunohystochemical markers for WT-1 and inhibin and negative markers for CD99 and smooth muscle actin. Ovarian fibromas with extensive cystic degeneration are the exception to the rule that solid components or trabeculae in a cystic mass imply malignancy. Post-surgery, estradiol and gonadotropin returned to normal levels


Assuntos
Humanos , Adulto , Feminino , Fibroma/diagnóstico por imagem , Neoplasias Ovarianas/diagnóstico por imagem , Tumores do Estroma Gonadal e dos Cordões Sexuais/diagnóstico por imagem , Fibroma/patologia , Fibroma/cirurgia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Amenorreia/complicações , Tumores do Estroma Gonadal e dos Cordões Sexuais/complicações , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Imuno-Histoquímica
11.
PLoS One ; 14(12): e0226992, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31881068

RESUMO

OBJECTIVES: To measure the prevalence and correlates of abnormal menstruation among women living with HIV (WLWH) in Canada. METHODS: We used cross-sectional questionnaire data from the community-based Canadian HIV Women's Sexual and Reproductive Health Cohort Study (CHIWOS), which enrolled WLWH aged ≥16 from British Columbia (BC), Ontario, and Quebec. For this analysis, we excluded women >45 years, who had primary amenorrhea, were pregnant, on hormonal contraception, or who reported history of endometrial cancer, last menstrual period >12 months ago, or premature ovarian failure. The primary outcome was abnormal menstruation (Yes vs No) based on responses to five questions about menstrual regularity, frequency, volume, duration, and intermenstrual bleeding in the six months prior to interview. An exploratory multivariable logistic regression analysis examined independent correlates of abnormal menstruation. RESULTS: Of 1422 women enrolled, 521 (37%) met eligibility criteria. Overall, 55.9% (95% CI:52%-60%) reported abnormal menstruation. In adjusted analyses, abnormal menstruation was associated with having a biologic sister/mother who entered menopause before age 40 (AOR 5.01, 95%CI 1.39-18.03), Hepatitis B co-infection (AOR 6.97, 95%CI 1.52-31.88), current smoking (AOR 1.69, 95%CI 1.55-3.41); and currently taking antiretroviral therapy (ART) (AOR 2.36, 95%CI 1.25-4.45) compared to being ART-naïve. Women in BC had higher adjusted odds of abnormal menstruation (AOR 2.95, 95%CI 1.61-5.39), relative to women in Ontario and Quebec. CONCLUSIONS: Over half of WLWH in this analysis had abnormal menstruation. Correlates of abnormal menstruation include genetic, socio-behavioural factors (province of residence, smoking), Hepatitis B co-infection, and current ART use.


Assuntos
Infecções por HIV/epidemiologia , Distúrbios Menstruais/epidemiologia , Adolescente , Adulto , Amenorreia/epidemiologia , Canadá/epidemiologia , Estudos Transversais , Feminino , Infecções por HIV/complicações , Humanos , Menstruação , Distúrbios Menstruais/complicações , Prevalência , Saúde da Mulher , Adulto Jovem
12.
J Med Case Rep ; 13(1): 321, 2019 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-31665081

RESUMO

BACKGROUND: Infertility continues to be an enigmatic and emerging problem. Although in vitro fertilization has proved to be revolutionary and immensely beneficial to many people, it is far from perfect, and many women experience recurrent in vitro fertilization failures. There can be a multitude of factors involved in recurrent in vitro fertilization failures. The aim of this report was to explore the role of hysteroscopy in determining potential causes of in vitro fertilization failure and how the relevant hysteroscopic findings can address the issue of infertility in terms of a subsequent successful in vitro fertilization. CASE PRESENTATION: A 37-year-old white Arab woman with a history of eight in vitro fertilization failures and one curettage performed for a blighted ovum presented to our hospital because of inability to conceive. Her past medical history was significant for hypothyroidism and positive factor V Leiden. She underwent hystero contrast sonography, which revealed a normal uterine cavity with irregular fillings in the right corner. To explore this further, hysteroscopy was performed, which showed dense adhesions in the right upper corner and first-degree adhesions in the lower half of the uterus. After undergoing adhesiolysis and a cycle of estradiol valerate and progesterone, the patient successfully conceived twins. CONCLUSIONS: Hysteroscopy may play an important role before or in conjunction with assisted reproductive techniques to help infertile women and couples achieve their goals of pregnancy and live birth of a child.


Assuntos
Fertilização In Vitro/efeitos adversos , Histeroscopia , Gravidez de Gêmeos , Aderências Teciduais/cirurgia , Doenças Uterinas/cirurgia , Adulto , Amenorreia/complicações , Estradiol/uso terapêutico , Estrogênios/uso terapêutico , Feminino , Humanos , Infertilidade Feminina/etiologia , Infertilidade Feminina/terapia , Gravidez , Progesterona/uso terapêutico , Progestinas/uso terapêutico , Aderências Teciduais/diagnóstico por imagem , Falha de Tratamento , Doenças Uterinas/diagnóstico por imagem
13.
Arch. med. deporte ; 36(193): 319-322, sept.-oct. 2019.
Artigo em Espanhol | IBECS | ID: ibc-186895

RESUMO

El objetivo de esta breve revisión es describir cómo el entrenamiento físico en hombres puede provocar cambios en el sistema reproductivo similares a los observados en mujeres que desarrollan amenorrea atlética o manifiestan la tríada de la mujer atleta. Hombres expuestos sistemáticamente a entrenamientos para deportes de resistencia exhiben concentraciones de testosterona libre y basal reducidas, pero sin manifestar un aumento simultáneo de hormona luteinizante. Esta condición se denomina "hipogonadismo masculino producto del ejercicio" (EHMC, por sus siglas en inglés). Ambos estados están asociados a una disfunción en el eje hipotalámico-hipofisario-gonadal. En las mujeres, la alteración del eje está vinculada a un estado de baja disponibilidad energética (BDE); en los hombres, la investigación relacionada con la BDE está en curso. El mecanismo fisiológico exacto que induce la reducción de testosterona en estos hombres aún no está claro, pero se postula que es una disfunción dentro del eje regulador hipotalámico-hipofisario-gonadal. Existe la posibilidad de que las bajas concentraciones de testosterona de los hombres con EHMC sean disruptivas y perjudiciales para algunos procesos fisiológicos anabólico-androgénicos dependientes de testosterona. Los hallazgos, aunque limitados, sugieren que en algunos casos pueden existir problemas de espermatogénesis; por lo tanto, el riesgo de infertilidad en tales hombres es una preocupación crucial. La evidencia actual sugiere que el EHMC se limita a hombres que han estado involucrados en entrenamiento de resistencia de manera persistente y durante tiempo prolongado, por lo que el EHMC no es una condición prevalente. De todos modos, es fundamental que médicos endocrinólogos y especialistas en fertilidad estén atentos a la existencia del EHMC como potencial problema - y diagnostico - que pueden padecer sus pacientes deportistas varones


The objective of this short review is to discuss how exercise training in men can result in changes in the reproductive system similar to those observed in women who develop athletic amenorrhea or suffer the Female Athlete Triad. Men chronically exposed to training for endurance sports exhibit persistently reduced basal free and total testosterone concentrations without concurrent luteinizing hormone elevations. These men are deemed to have the "Exercise-Hypogonadal Male Condition" (EHMC). Broadly, dysfunction in the hypothalamic-pituitary-gonadal regulatory axis is associated with either of these states. In women this effect on the axis is linked to the existence of a low energy availability (LEA) state, research in men relative to LEA is ongoing. The exact physiological mechanism inducing the reduction of testosterone in these men is currently unclear but is postulated to be a dysfunction within the hypothalamic-pituitary-gonadal regulatory axis. The potential exists for the reduced testosterone concentrations within EHMC men to be disruptive and detrimental to some anabolic-androgenic testosterone-dependent physiological processes. Findings, while limited, suggest spermatogenesis problems may exist in some cases; thus, infertility risk in such men is a critical concern. Present evidence suggests the EHMC condition is limited to men who have been persistently involved in chronic endurance exercise training for an extended period of time, and thus is not a highly prevalent occurrence. Nevertheless, it is critical that endocrinologist and fertility clinicians become more aware of the existence of EHMC as a potential problem-diagnosis in their male patients who exercise


Assuntos
Humanos , Masculino , Hipogonadismo/etiologia , Exercício Físico/fisiologia , Resistência Física/fisiologia , Condicionamento Físico Humano/efeitos adversos , Saúde Reprodutiva , Amenorreia/complicações , Testosterona/fisiologia
14.
Urology ; 134: 213-216, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31560918

RESUMO

Mayer-Rokitansky-Küster-Hauser syndrome is a congenital malformation disorder resulting in agenesis of the proximal vagina, absence of cervix, and variable development of the uterus. This report describes the repair of a complex iatrogenic urethrovaginal injury due to a missed diagnosis of Mayer-Rokitansky-Küster-Hauser. Our treatment utilized a primary urethroplasty through a transvaginal approach with bladder neck reconstruction and a Martius flap for secondary coverage. Urinary continence was restored postoperatively.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Anormalidades Congênitas/diagnóstico , Doença Iatrogênica , Ductos Paramesonéfricos/anormalidades , Uretra/lesões , Bexiga Urinária/lesões , Incontinência Urinária/etiologia , Adolescente , Amenorreia/cirurgia , Feminino , Humanos , Hímen/cirurgia , Imagem por Ressonância Magnética , Diagnóstico Ausente , Uretra/cirurgia , Bexiga Urinária/cirurgia , Incontinência Urinária/cirurgia
15.
JNMA J Nepal Med Assoc ; 57(216): 119-122, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31477946

RESUMO

Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer­Rokitansky­Kuster­Hauser syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46 XX karyotype. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report a case of a 24-years old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46,XX. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. There were no other morphological malformations. Keywords: Gonadal dysgenesis; Mayer Rokitansky Kuster Hauser syndrome; Mullerian agenesis; primary amenorrhea; 46,XX.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Amenorreia/etiologia , Anormalidades Congênitas/diagnóstico , Disgenesia Gonadal 46 XX/diagnóstico , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/genética , Feminino , Disgenesia Gonadal 46 XX/genética , Humanos , Cariótipo , Útero/anormalidades , Vagina/anormalidades , Adulto Jovem
16.
BMJ Case Rep ; 12(8)2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31466990

RESUMO

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, has been described since 1952. Traditionally, the syndrome has been described as having eye, ear, facial and vertebral anomalies. However, numerous case reports and reviews have highlighted multi-organ involvement, including cardiovascular, gastrointestinal, respiratory system and urinary abnormalities. We describe a 13 years old who has a reproductive tract abnormality, which has not been reported previously as a finding of Goldenhar syndrome.


Assuntos
Amenorreia/etiologia , Síndrome de Goldenhar/diagnóstico , Anormalidades Urogenitais/complicações , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/genética , Adolescente , Amenorreia/diagnóstico , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Diagnóstico Diferencial , Feminino , Síndrome de Goldenhar/genética , Síndrome de Goldenhar/patologia , Humanos , Cariótipo , Ductos Paramesonéfricos/anormalidades , Equipe de Assistência ao Paciente , Ultrassonografia/métodos , Anormalidades Urogenitais/diagnóstico por imagem
17.
Vitam Horm ; 111: 247-279, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31421703

RESUMO

More than 40years ago, the endogenous opioids were first described. Their role as important neuromodulators of pain and their influence on a variety of neuroendocrine control systems within the central nervous system has been recognized. More recently, endogenous opioids and their receptor have been identified in a variety of reproductive and non-reproductive tissues outside the central nervous system. What role the opioid system plays in these peripheral tissues and organs is not completely understood and thus the subjects of current research. In the central nervous system, endogenous opioids inhibit pulsatile Gonadotropin Releasing Hormone (GnRH) release, affecting the release of gonadotropins from the pituitary, and thus mediating stress response within the central nervous-pituitary-gonadal axes in both women and men-Peripherally, endogenous opioids have been demonstrated to be present-among other organs-in the pancreas and in the ovary, where they are produced by granulosa cells and may influence oocyte maturation. In men, endogenous opioids play a role in sperm production within the testis. Opioid antagonists such as naltrexone have been used to restore cyclicity in women through improvement in insulin resistance, GnRH-pulsatility and hyperandrogenemia stemming from specific pathophysiological conditions such as hypothalamic amenorrhea, polycystic ovarian syndrome, hyperinsulinemia, ovarian hyperstimulation syndrome. Opioid antagonists have also been used to treat male sexual disorders and male infertility. In summary, endogenous opioids exert a variety of actions within the reproductive system which are reviewed in this chapter.


Assuntos
Analgésicos Opioides/farmacologia , Peptídeos Opioides/fisiologia , Reprodução/efeitos dos fármacos , Reprodução/fisiologia , Amenorreia/etiologia , Amenorreia/fisiopatologia , Animais , Endorfinas/fisiologia , Feminino , Humanos , Doenças Hipotalâmicas/complicações , Doenças Hipotalâmicas/fisiopatologia , Masculino , Peptídeos Opioides/antagonistas & inibidores , Ocitocina/fisiologia , Síndrome do Ovário Policístico/fisiopatologia , Gravidez , Prolactina/fisiologia , Receptores Opioides/fisiologia
18.
J Hand Surg Asian Pac Vol ; 24(3): 383-385, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31438786

RESUMO

Idiopathic intrinsic contracture (IIC) with no history of trauma, ischemia, or spasticity is extremely rare. We report herein a case of impaired extension of the digits due to bilateral IICs occurred in a 30-year-old woman with a past medical history of eating disorder and amenorrhea. Although no previous case has been reported in the literature, eight similar cases of IIC have been presented at Japanese domestic conferences. In these eight cases and the present case, resection of the thenar muscle cords and unilateral resection of the lateral band were effective. Since IIC in patients with an eating disorder is a rare condition, it would be treated conservatively at first as tendon sheath inflammation or locking. However, this condition may be resistant to conservative treatment, and surgical treatment should be considered in such cases.


Assuntos
Contratura/etiologia , Contratura/cirurgia , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Adulto , Amenorreia/complicações , Contratura/diagnóstico , Feminino , Humanos , Músculo Esquelético/cirurgia , Tendões/cirurgia
19.
Medicine (Baltimore) ; 98(35): e16996, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31464951

RESUMO

RATIONALE: Hormone imbalance and menstrual irregularities are normal for postpill women. Pharmacopuncture and moxibustion can stimulate acupoints with herbal extract and heat, respectively, to regulate the function of qi and blood, expel pathogens, and support health. PATIENT CONCERNS: A 39-year-old female patient presented with amenorrhea, >6 months after she had stopped taking the oral contraceptive pill, which she had taken for more than 10 years, and possible associated infertility. Additionally, she reported sudden weight gain of approximately 12 kg in 1 year. DIAGNOSES: In this study, we examined the amenorrhea lasted more than 6 months for postpill patient. INTERVENTIONS: She refused a strong acupuncture stimulus; she underwent lower abdomen pharmacopuncture with wild ginseng complex (WGC) and moxibustion at CV4, 5 times during 1 month. As a secondary treatment, 1 g Geoseub-hwan pills were prescribed for overeating and during social events. After 5 weekly primary treatments, Geoseub-hwan was prescribed intermittently. OUTCOME: After 3 primary treatments, she began menstruation without menstrual cramps or discomfort. After 5 treatments, she exhibited improvement of body weight and body composition. At 1- and 3-month follow-up examinations, she confirmed regular menstruation without discomfort. LESSONS: Pharmacopuncture with WGC and moxibustion may be effective for the treatment of postpill amenorrhea with abdominal obesity and can be used for patients with fear of a strong acupuncture stimulus.


Assuntos
Terapia por Acupuntura/métodos , Amenorreia/terapia , Medicina Tradicional Coreana/métodos , Adulto , Amenorreia/etiologia , Terapia Combinada , Anticoncepcionais Orais/efeitos adversos , Feminino , Humanos , Moxibustão/métodos , Panax , República da Coreia , Ganho de Peso
20.
BMC Med Genet ; 20(1): 132, 2019 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-31366388

RESUMO

BACKGROUND: FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple association of inherited developmental defects of the eyelid area, while in type 1 female patients additionally suffer from POI. The following case study is the first report of endocrine impairments typical for menopausal transition in young female with NG_012454.1:g.138665342G > A, c.223C > T p.(Leu75Phe), mutation in FOXL2 gene. This mutation has been reported in the literature before, however until now, it was never linked to BPES type 1. CASE PRESENTATION: An 18-year-old nulliparous woman suspected of secondary amenorrhea was referred to our Endocrinology Outpatient Clinic. Blood tests revealed decreased levels of AMH (anti-Mullerian hormone) and increased levels of gonadotropins, suggesting menopausal transition. Her past medical history was remarkable for several ophthalmic defects that has required surgical interventions. BPES syndrome had not been suspected before, although the patient had reported a similar phenotype occurring in her father, sister and half-sister. Venous blood samples were collected from the female proband and from her three family members. Whole-exome sequencing and deep amplicon sequencing were performed. A potential pathogenic variant in the FOXL2 gene was revealed. Namely, the c.223C > T p.(Leu75Phe) missense variant was detected. CONCLUSIONS: The authors found mutations, c.223C > T p.(Leu75Phe) in the FOXL2 gene in a young woman with hormonal disorders suggesting menopausal transition. These results indicate that the possibility of different phenotypes should be considered in patients with a similar genetic mutation.


Assuntos
Blefarofimose/genética , Proteína Forkhead Box L2/genética , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Mutação , Insuficiência Ovariana Primária/genética , Anormalidades da Pele/genética , Anormalidades Urogenitais/genética , Adolescente , Amenorreia , Blefarofimose/fisiopatologia , Pálpebras , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Hormônios/sangue , Humanos , Linhagem , Fenótipo , Insuficiência Ovariana Primária/fisiopatologia , Anormalidades da Pele/fisiopatologia , Síndrome , Anormalidades Urogenitais/fisiopatologia , Sequenciamento Completo do Exoma
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