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1.
Sex Transm Dis ; 50(11): 753-759, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-37824787

RESUMEN

BACKGROUND: Genital ulcer diseases (GUDs) are a common syndrome associated with sexually transmitted infections. Genital ulcer diseases increase the risk of HIV transmission, necessitating appropriate diagnosis and treatment. We provide an updated GUD etiology assessment in Malawi to guide diagnostic development and treatment algorithms. METHODS: We enrolled patients 18 years or older presenting with GUD at a sexually transmitted infection clinic in Lilongwe, Malawi, between May and October 2021. We purposively sampled by HIV status. Swabs of ulcers were tested for Treponema pallidum, herpes simplex virus (HSV)-1 and HSV-2, Haemophilus ducreyi, and Chlamydia trachomatis using polymerase chain reaction. Blood was collected for syphilis and HSV-2 serologies and acute HIV testing. Participants were treated per Malawi guidelines. Ulcer resolution (size reduced by >50%) was evaluated 14 days later. RESULTS: Fifty participants enrolled (30 without HIV, 2 with acute HIV infection, 18 with HIV seropositivity; 32 men, 18 women). Forty-six (92%) had an etiology identified. Syphilis was more common among those without HIV (22 of 30 [73%]) than participants with HIV (PWH; 8 of 20 [40%]; P = 0.04). Herpes simplex virus was more common among PWH (11 of 20 [55%]) than participants without (2 of 30 [7%]; P = 0.0002). One-fifth (9 of 50 [18%]) had H. ducreyi. Among those who returned for follow-up (n = 45), 9 (20%) had unresolved ulcers; persistent GUD was slightly more common in PWH (6 of 19 [32%]) than participants without (3 of 26 [12%]; P = 0.14). CONCLUSIONS: We observed a dramatic increase in syphilis ulcer proportion in a population whose GUDs were previously HSV predominant. Observed differences in etiology and resolution by HIV status could play an important role in the ongoing transmission and treatment evaluation of GUD.


Asunto(s)
Enfermedades de los Genitales Masculinos , Infecciones por VIH , Herpes Genital , Herpesvirus Humano 1 , Enfermedades de Transmisión Sexual , Sífilis , Masculino , Humanos , Femenino , Úlcera/epidemiología , Úlcera/etiología , Infecciones por VIH/complicaciones , Infecciones por VIH/epidemiología , Sífilis/complicaciones , Sífilis/epidemiología , Sífilis/diagnóstico , Malaui/epidemiología , Enfermedades de Transmisión Sexual/epidemiología , Herpesvirus Humano 2 , Genitales , Herpes Genital/complicaciones , Herpes Genital/epidemiología , Enfermedades de los Genitales Masculinos/etiología
2.
Andrology ; 11(2): 379-398, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35933708

RESUMEN

Diabetes mellitus is a rapidly rising metabolic disorder with important systemic complications. Global figures have demonstrated the prevalence of diabetes mellitus has almost quadrupled from 108 million in 1980 to 422 million in 2014, with a current prevalence of over 525 million. Of the male sexual dysfunction resulting from diabetes mellitus, significant focus is afforded to erectile dysfunction. Nevertheless, ejaculatory dysfunction constitutes important sexual sequelae in diabetic men, with up to 35%-50% of men with diabetes mellitus suffering from ejaculatory dysfunction. Despite this, aspects of its pathophysiology and treatment are less well understood than erectile dysfunction. The main disorders of ejaculation include premature ejaculation, delayed ejaculation, anejaculation and retrograde ejaculation. Although ejaculatory dysfunction in diabetes mellitus can have complex multifactorial aetiology, understanding its pathophysiological mechanisms has facilitated the development of therapies in the management of ejaculatory dysfunction. Most of our understanding of its pathophysiology is derived from diabetic animal models; however, observational studies in humans have also provided useful information in elucidating important associative factors potentially contributing to ejaculatory dysfunction in diabetic men. These have provided the potential for more tailored treatment regimens in patients depending on the ejaculatory disorder, other co-existing sequelae of diabetes mellitus, specific metabolic factors as well as the need for fertility treatment. However, evidence for treatment of ejaculatory dysfunction, especially delayed ejaculation and retrograde ejaculation, is based on low-level evidence comprising small sample-size series and retrospective or cross-sectional studies. Whilst promising findings from large randomised controlled trials have provided strong evidence for the licensed treatment of premature ejaculation, similar robust studies are needed to accurately elucidate factors predicting ejaculatory dysfunction in diabetes mellitus, as well as for the development of pharmacotherapies for delayed ejaculation and retrograde ejaculation. Similarly, more contemporary robust data are required for fertility outcomes in these patients, including methods of sperm retrieval and assisted reproductive techniques in retrograde ejaculation.


Asunto(s)
Diabetes Mellitus , Eyaculación , Enfermedades de los Genitales Masculinos , Humanos , Masculino , Estudios Transversales , Diabetes Mellitus/epidemiología , Diabetes Mellitus/fisiopatología , Eyaculación/fisiología , Eyaculación Prematura/epidemiología , Eyaculación Prematura/etiología , Eyaculación Prematura/fisiopatología , Estudios Retrospectivos , Semen , Enfermedades de los Genitales Masculinos/epidemiología , Enfermedades de los Genitales Masculinos/etiología
3.
BMJ Case Rep ; 15(11)2022 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-36357099

RESUMEN

Haematospermia, even though alarming, is usually benign and self-limiting, especially in a sexually active male. Nevertheless recurrent, refractory or painful haematospermia is troublesome and warrants thorough evaluation. In this context, we describe a rare case of recurrent haematospermia whereby evaluation revealed haemorrhage in seminal vesicle cysts and consequently established the aetiology of autosomal dominant polycystic kidney disease.


Asunto(s)
Quistes , Enfermedades de los Genitales Masculinos , Hematospermia , Riñón Poliquístico Autosómico Dominante , Masculino , Humanos , Hematospermia/complicaciones , Riñón Poliquístico Autosómico Dominante/complicaciones , Enfermedades de los Genitales Masculinos/etiología , Quistes/etiología
4.
Int J STD AIDS ; 33(6): 622-624, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35337226

RESUMEN

COVID-19 is a viral infection which can present with various clinical manifestations. While it primarily affects the respiratory tract, several other manifestations including skin involvements have been reported. Dermatologic manifestations are uncommon, and its prevalence is not well-known. In COVID-19, there have been two reports of acute genital ulceration to date, and both are female. Here, we report a male patient with COVID-19 complicated by acute genital ulceration in the course of the illness.


Asunto(s)
COVID-19 , Enfermedades de los Genitales Masculinos , COVID-19/complicaciones , Femenino , Enfermedades de los Genitales Masculinos/etiología , Genitales , Humanos , Masculino , Úlcera/etiología
5.
Am J Case Rep ; 23: e935250, 2022 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-35196307

RESUMEN

BACKGROUND Cocaine is a highly addictive drug and its use has increased in recent years. It is the second most popular illicit drug in the United States and is the second most trafficked illicit drug in the world. Intravenous (i.v.) drug use leads to severe injury to the veins, including erythema, thrombophlebitis, vasoconstriction, necrosis, development of venous ulceration, and vein occlusion. CASE REPORT A 35-year-old man presented to our Emergency Department with a 3-day history of excruciating and progressive penile and scrotal pain after having injected cocaine in the dorsal vein of the penis. A genital examination revealed ulcerations and swelling on the ventral proximal penis and scrotum junction, with foul-smelling serous discharge. There was no crepitus. He also had stellate purpura with necrosis of the dorsum of the penis and tender bilateral inguinal lymphadenopathy. Computed tomography of the pelvis, with contrast, showed subcutaneous edema of the penis with ulceration of the penile tip on the right. It also revealed left inguinal adenopathy. Vasculitis and concomitant sexually transmitted disease were ruled out as well as Fournier gangrene, and he was started on i.v. broad-spectrum antibiotics. The patient's clinical condition improved with antibiotics and local wound care. CONCLUSIONS Our case highlights the importance of taking a thorough history from i.v. drug users, as they are at risk of injecting drugs into unusual sites, such as the dorsal penile vein. It is important for the physician to counsel active i.v. drug users regarding possible complications of injecting drug into unusual sites.


Asunto(s)
Cocaína , Enfermedades de los Genitales Masculinos , Enfermedades del Pene , Adulto , Cocaína/efectos adversos , Enfermedades de los Genitales Masculinos/etiología , Humanos , Inyecciones Intravenosas , Masculino , Necrosis/inducido químicamente , Enfermedades del Pene/inducido químicamente , Enfermedades del Pene/complicaciones
7.
Clin Exp Dermatol ; 47(1): 107-109, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34499360

RESUMEN

BACKGROUND: Male genital lichen sclerosus (MGLSc) is an acquired, chronic, inflammatory cutaneous disease associated with significant morbidity and squamous cell carcinoma of the penis. Consideration of all of the evidence suggests that chronic exposure of susceptible epithelium to urinary occlusion by the foreskin is the most likely pathomechanism. MGLSc never occurs in men who were circumcised at birth, and has been associated with trauma, instrumentation and anatomical abnormalities, e.g. frank hypospadia that results in microincontinence. AIM: To describe 21 patients who developed MGLSc following urological diagnoses and procedures. METHODS: We conducted a retrospective review of patients with a diagnosis of MGLSc whose symptoms related to urological procedures who attended or saw one of the authors (CBB) privately during the period June-October 2018. RESULTS: In total, 21 patients (mean age 59 years) were identified. The referrals came from the local urology departments, primary care or extramural dermatology services. Most of the patients were uncircumcised men. All had developed symptoms and signs of MGLSc within 5 years following their urological procedure; on examination, 30% of the patients were found to have damp penile skin due to microincontinence. Of the 21 patients, 10 had undergone radical prostatectomy for prostate cancer, 4 had a diagnosis of Peyronie disease, 4 had undergone multiple cystoscopies and urethroscopies, 2 had undergone surgery on the bladder neck and 1 had undergone implantation of a penile prosthesis to treat erectile dysfunction. CONCLUSION: This case series further strengthens the urinary occlusion hypothesis for the causation of MGLSc. It is important to recognize that urological interventions can create incompetence of the naviculomeatal valve post voiding. In uncircumcised men, this creates a risk factor for MGLSc that was not previously present. Occlusion, the phenomenon of koebnerization and currently unelucidated epithelial susceptibility factors lead to inflammation, sclerosis and cancer. Patients and urologists should be aware of these possibilities and preventative measures instituted, e.g. adaptive voiding habits and barrier protection.


Asunto(s)
Enfermedades de los Genitales Masculinos/etiología , Liquen Escleroso y Atrófico/etiología , Complicaciones Posoperatorias/etiología , Incontinencia Urinaria/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Procedimientos Quirúrgicos Urológicos Masculinos/efectos adversos
8.
Ital J Pediatr ; 47(1): 207, 2021 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-34641915

RESUMEN

BACKGROUND: Idiopathic hemoperitoneum in the newborn is an entity very rarely encountered in clinical practice. CASE PRESENTATION: A case of scrotal hemorrhage (SH) associated with intrabdominal hemorrhaging and acute anemia is presented. Indications for early surgery included a massive scrotal hematoma, rapid onset of severe anemia, and unknown etiology. CONCLUSION: Clinical and diagnostic approaches in a case of neonatal scrotal hematoma should be given careful consideration as abdominal in origin, and a pre-operative computed tomography (CT) scan or magnetic resonance image (MRI) in addition to an abdominal/scrotal ultrasound should be added as part of the diagnostic work-up.


Asunto(s)
Enfermedades de los Genitales Masculinos/etiología , Hematoma/etiología , Hemoperitoneo/diagnóstico , Humanos , Recién Nacido , Masculino , Escroto
9.
BMJ Case Rep ; 14(6)2021 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-34083196

RESUMEN

A 10-day-old newborn was taken to the paediatric emergency room due to scrotal swelling. Physical examination showed scrotal enlargement and palpable intrascrotal hard formations. Laboratory blood tests revealed no significant alterations. Testicular ultrasonography showed thickened and hypoechoic scrotal walls and bilateral intrascrotal isoechoic nodules with small internal calcifications. An abdominal X-ray confirmed evidence of bilateral scrotal microcalcifications and small calcifications in the left hypochondrium. Urgent laparotomy performed for scrotal exploration verified the presence of nodular formations on the vaginal tunic of both testicles; the nodules were removed. Bilateral orchidopexy was performed in the same surgical session. When dealing with an acute scrotum in a newborn both emergency radiologists and clinicians should consider the possibility of scrotal meconium pseudocyst as a rare but possible cause of periorchitis.


Asunto(s)
Enfermedades de los Genitales Masculinos , Orquitis , Niño , Femenino , Enfermedades de los Genitales Masculinos/diagnóstico por imagen , Enfermedades de los Genitales Masculinos/etiología , Enfermedades de los Genitales Masculinos/cirugía , Humanos , Recién Nacido , Masculino , Meconio , Orquitis/diagnóstico por imagen , Orquitis/etiología , Escroto/diagnóstico por imagen , Escroto/cirugía
10.
Investig Clin Urol ; 62(3): 324-330, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33943053

RESUMEN

PURPOSE: To determine references for penile circumference according to age in prepubertal children and whether this measurement can be used as a basic penile parameter along with stretched penile length in prepubertal children. MATERIALS AND METHODS: A total of 750 children (mean age, 4.2±3.4 years) aged under 14 years without penile problems were enrolled in this study. Children with penile or testicular abnormalities were excluded. All data were gathered at the outpatient clinic by a single pediatric urologist from July 2017 to April 2020. Penile parameters (baseline and stretched penile length, penile circumference) and testicular volumes were measured by using an elastic ruler and a Prader orchidometer, respectively. RESULTS: Mean baseline and stretched penile lengths were 3.0±1.0 cm and 4.2±1.0 cm, respectively. The mean penile circumference was 4.2±0.9 cm. The stretched penile length was similar to penile circumference (p=0.425). This similarity was found for each age group except for the 0-1-year-old and 3-4-year-old age groups (p=0.001 and p=0.034, respectively). As children grow into adolescence, stretched penile length increases significantly compared to penile circumference. CONCLUSIONS: Penile circumference increased with age like stretched penile length and testicular volume in prepubertal children. Stretched penile length and penile circumference were found to be similar. This study can be used as a basic reference for penile circumference values in prepubertal children.


Asunto(s)
Pene/patología , Factores de Edad , Niño , Preescolar , Enfermedades de los Genitales Masculinos/diagnóstico , Enfermedades de los Genitales Masculinos/etiología , Enfermedades de los Genitales Masculinos/terapia , Humanos , Lactante , Masculino , Tamaño de los Órganos , Pene/crecimiento & desarrollo , Proyectos Piloto , Valores de Referencia , Reproducibilidad de los Resultados , Estudios Retrospectivos , Trastornos Urinarios/diagnóstico , Trastornos Urinarios/etiología , Trastornos Urinarios/terapia
11.
Andrology ; 9(5): 1383-1394, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33864338

RESUMEN

BACKGROUND: Ultrasound (US) is the primary modality for the investigation of scrotal pathology, including both intra- and paratesticular abnormalities. OBJECTIVE: To describe the abnormalities of the paratesticular space. MATERIALS/METHODS: The paratesticular space contains the epididymis, spermatic cord and the tunica vaginalis cavity and is affected by a variety of inflammatory or tumoral entities. Differential diagnosis based on US criteria is frequently problematic, as the findings are non-specific. RESULTS: Some general rules apply: (i) unlike testicular lesions, extra-testicular entities are usually benign in the adult, (ii) the first steps to accurate diagnosis include careful localization of the lesion and assessment of its consistency (solid or cystic) and (iii) magnetic resonance imaging can be useful for further tissue characterization of lesions suspected to contain fat, but surgical biopsy will often provide the definite diagnosis. Contrast-enhanced ultrasound (CEUS) has been applied with limited experience indicating a narrow role, primarily for the differential diagnosis of echogenic cystic entities and the delineation of a necrotic abscess from a solid neoplasm. DISCUSSION: The various abnormalities are discussed and illustrated. CONCLUSION: This manuscript summarizes the literature on paratesticular lesions and the value of US in diagnosis.


Asunto(s)
Enfermedades de los Genitales Masculinos/diagnóstico por imagen , Enfermedades de los Genitales Masculinos/etiología , Enfermedades Testiculares/diagnóstico por imagen , Enfermedades Testiculares/etiología , Ultrasonografía/métodos , Adulto , Medios de Contraste , Diagnóstico Diferencial , Epidídimo/diagnóstico por imagen , Humanos , Masculino , Escroto/diagnóstico por imagen , Cordón Espermático/diagnóstico por imagen , Testículo/diagnóstico por imagen
12.
Curr Urol Rep ; 22(2): 12, 2021 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-33447905

RESUMEN

PURPOSE OF REVIEW: Chronic scrotal content pain (CSCP) is a complex condition with multiple etiologies that requires a thorough understanding of its pathophysiology, workup, and treatment options. We performed a comprehensive and contemporary review to augment our current understanding of CSCP. RECENT FINDINGS: We discuss new advances in CSCP-specific pain questionnaires, modern studies of microscopic spermatic cord denervation and its variations, and novel techniques including electric nerve stimulation and cryoablation in addition to randomized control trials with significant negative findings. We also present literature focusing on the prevention of CSCP secondary to surgical iatrogenic causes. The constantly evolving literature of CSCP has led to the significant evolution in its diagnosis and treatment, from oral medications to salvage options after microscopic spermatic cord denervation. With each advance, we come closer to developing a more thorough, evidence-based algorithm to guide urologists in treatment of CSCP.


Asunto(s)
Dolor Crónico/terapia , Enfermedades de los Genitales Masculinos/terapia , Escroto , Algoritmos , Dolor Crónico/etiología , Criocirugía , Desnervación/métodos , Terapia por Estimulación Eléctrica , Enfermedades de los Genitales Masculinos/diagnóstico , Enfermedades de los Genitales Masculinos/etiología , Humanos , Enfermedad Iatrogénica/prevención & control , Masculino , Microcirugia , Dimensión del Dolor , Dolor Pélvico/etiología , Dolor Pélvico/terapia , Ensayos Clínicos Controlados Aleatorios como Asunto , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/etiología , Enfermedades de la Piel/terapia , Cordón Espermático/inervación , Enfermedades Testiculares/diagnóstico , Enfermedades Testiculares/terapia
14.
Clin Anat ; 34(2): 307-311, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33170983

RESUMEN

This third installment of The Effects of Obesity on the Human Body discusses the endocrine, digestive, reproductive, cardiovascular, and excretory systems. Obesity is known to upset hormonal balance, leading to widespread metabolic disorders involving organs such as the liver and pancreas. Furthermore, the hypersecretion of leptin from adipose tissue triggers various responses from the cardiovascular and gastrointestinal systems, with implications for energy and nutrient balance and uptake.


Asunto(s)
Enfermedades Cardiovasculares/etiología , Enfermedades del Sistema Endocrino/etiología , Enfermedades Urogenitales Femeninas/etiología , Enfermedades Gastrointestinales/etiología , Enfermedades de los Genitales Masculinos/etiología , Obesidad/complicaciones , Enfermedades Urológicas/etiología , Femenino , Humanos , Masculino
15.
Zhonghua Nan Ke Xue ; 26(8): 717-721, 2020 Aug.
Artículo en Chino | MEDLINE | ID: mdl-33377733

RESUMEN

OBJECTIVE: To investigate the factors influencing the recovery from childhood inguinal herniorrhaphy (IH)-induced vas deferens obstruction following microscopic vasovasostomy. METHODS: We retrospectively analyzed the clinical data on 41 cases of microscopic vasovasostomy for obstructive azoospermia in our hospital from July 2015 to September 2018. All the patients had a history of inguinal hernia treated by IH in the childhood. We performed scrotal ultrasonography, semen analysis and seminal plasma biochemistry to confirm vas deferens obstruction preoperatively. If sperm was observed for ≥2 times in semen examination after vasovasostomy, we considered the vas deferens successfully unobstructed. RESULTS: Microscopic vasovasostomy was successfully completed in 39 of the cases, of which2 were lost to follow-up, with a follow-up rate of 94.8% (37/39). The patients, at the mean age of (25.54 ± 2.85) years and with body mass index (BMI) of (24.92 ± 2.79) kg/m2 and post-IH time of (18.97 ± 2.58) years, were followed up for (13.05 ± 3.74) months. Successful recovery from vas deferens obstruction was observed in 78.4% (29/37) of the patients after IH, 80.0% (16/20) in the < 26-year-olds, 76.5% (13/17) in the ≥26-year-olds (P = 0.795), 75.0% (12/16) in those with BMI < 24.92 kg/m2 , 81.0% (17/21) in those with BMI ≥24.92 kg/m2 (P = 0.807), 78.6% (11/14) in those with post-IH time of < 19 years, 18.3% (18/23) in those with post-IH time of ≥19 years (P = 0.982), 60.0% (12/20) in those with sperm and 82.4% (14/17) in those without sperm found intraoperatively (P = 0.428), 42.9% (3/7) in those treated by unilateral and 82.4% (26/30) in those by bilateral vasovasostomy (P = 0.027). Multivariate logistic regression analysis showed a close correlation between the operation side and postoperative recovery from vas deferens obstruction (P = 0.022). CONCLUSIONS: For male patients undergoing microscopic vasovasostomy for childhood IH-induced vas deferens obstruction, the operation side is an independent factor influencing postoperative recovery, while age, BMI, post-IH time, and intraoperative presence or absence of sperm are not significantly correlated with it.


Asunto(s)
Enfermedades de los Genitales Masculinos/cirugía , Hernia Inguinal/complicaciones , Conducto Deferente/cirugía , Vasovasostomía , Adulto , Niño , Enfermedades de los Genitales Masculinos/etiología , Herniorrafia , Humanos , Masculino , Estudios Retrospectivos , Conducto Deferente/fisiopatología , Adulto Joven
16.
Pediatr Clin North Am ; 67(6): 1187-1202, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33131541

RESUMEN

Gonadal dysfunction and infertility after cancer treatment are major concerns for childhood cancer survivors and their parents. Uncertainty about fertility or being diagnosed with infertility has a negative impact on quality of survival. In this article, determinants of gonadal damage are reviewed and consequences for fertility and pregnancies are discussed. Recommendations for screening and treatment of gonadal function are provided. These should enable timely treatment of gonadal insufficiency aiming to improve linear growth, pubertal development, and sexual functioning. Options for fertility preservation are discussed.


Asunto(s)
Supervivientes de Cáncer , Enfermedades de los Genitales Femeninos/etiología , Enfermedades de los Genitales Masculinos/etiología , Neoplasias/terapia , Antineoplásicos/efectos adversos , Niño , Desarrollo Infantil , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Femenino , Humanos , Masculino , Radioterapia/efectos adversos
17.
Medicine (Baltimore) ; 99(43): e22936, 2020 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-33120852

RESUMEN

RATIONALE: Kallmann syndrome (KS) is a rare inherited genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia/anosmia. Early diagnosis is the key to timely treatment and improvement of prognosis in patients with KS. As the most common complication of KS, renal agenesis can provide clues to early diagnosis and treatment for KS. In this article, we report a case of KS with 8 rare urinary disorders for the first time. PATIENT CONCERNS: A 19-year-old Chinese man presented with 8 rare urinary disorders and a history of bilateral cryptorchidism came to us for micropenis, hyposmia, and delayed puberty. DIAGNOSIS: The patient presented with hyposmia, low levels of sex hormones and showed a weak response to the GnRH stimulation test leading to a diagnosis of KS. Two missense mutations were found in further whole-exome sequencing: 1) Kallmann syndrome 1 (KAL1) gene in exon11, c.1600G > A, p. Val534Ile; 2) Prokineticin receptor 2 (PROKR2) gene in exon 2, c.533G > A, p. Trp178Ser. which led to a diagnosis of KS. INTERVENTIONS: The patient underwent replacement therapy of human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG). The patient had previously undergone six surgeries for cryptorchidism and urinary disorders. OUTCOMES: The patient's puberty retardation was effectively alleviated. His serum testosterone (T) reached a normal level (8.280 nmol/mL). During the follow-up period, he presented with Tanner stage II pubic hair development. CONCLUSION: In this article, we report 8 rare urinary disorders with missense mutations of KAL1 and PROKR2 in a case of KS. Among them, bilateral giant kidneys, urinary extravasation of right renal, bilateral megalo-ureters, left ureteral terminal obstruction, bilateral renal cyst and bladder emptying disorder are reported for the first time, which enrich the integrity of urinary disorder types and provide clues to genetic counseling in patients with KS.


Asunto(s)
Síndrome de Kallmann/diagnóstico , Síndrome de Kallmann/genética , Enfermedades Urológicas/etiología , Criptorquidismo/diagnóstico , Criptorquidismo/etiología , Criptorquidismo/cirugía , Exones , Proteínas de la Matriz Extracelular/genética , Enfermedades de los Genitales Masculinos/diagnóstico , Enfermedades de los Genitales Masculinos/etiología , Terapia de Reemplazo de Hormonas/métodos , Humanos , Síndrome de Kallmann/tratamiento farmacológico , Masculino , Mutación Missense/genética , Proteínas del Tejido Nervioso/genética , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/etiología , Pene/anomalías , Pubertad Tardía/diagnóstico , Pubertad Tardía/etiología , Enfermedades Raras , Receptores Acoplados a Proteínas G/genética , Receptores de Péptidos/genética , Resultado del Tratamiento , Secuenciación del Exoma/métodos , Adulto Joven
18.
Vet Clin North Am Food Anim Pract ; 36(3): 735-743, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33032703

RESUMEN

Whether poisoned by grazing toxic plants or by eating feeds that are contaminated by toxic plants, affected livestock often have compromised reproductive function including infertility, abortion, and fetal deformities. Certainly all diagnostic tools-field studies, clinical signs, gross and microscopic pathology as well as chemical identification of plant and plant toxins in animal samples-are essential to make an accurate diagnosis, to develop intervening management strategies and to improve the reproductive performance. The objectives of this review are to briefly introduce toxic plants that are reproductive toxins, abortifacients, or teratogens.


Asunto(s)
Abortivos/envenenamiento , Anomalías Congénitas/veterinaria , Enfermedades de los Genitales Femeninos/veterinaria , Enfermedades de los Genitales Masculinos/veterinaria , Ganado , Intoxicación por Plantas/veterinaria , Plantas Tóxicas/envenenamiento , Animales , Anomalías Congénitas/etiología , Femenino , Enfermedades de los Genitales Femeninos/etiología , Enfermedades de los Genitales Masculinos/etiología , Infertilidad , Masculino , Intoxicación por Plantas/etiología
19.
Clin Nucl Med ; 45(12): 994-996, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33065621

RESUMEN

Continuous ambulatory peritoneal dialysis is a convenient alternate form of treatment in patients receiving hemodialysis for renal failure. Sometimes during the procedure, patients may develop scrotal swelling because of patent processus vaginalis. The diagnostic utility of the peritoneal scintigraphy, an infrequently performed nuclear medicine scan to identify peritoneoscrotal communication, has been reported by many authors. Most of the previous case reports in the literature demonstrated unilateral peritoneoscrotal communication. We present an interesting Tc-sulfur colloid peritoneal scintigraphic image finding of bilateral peritoneoscrotal communication in a 67-year-old man who developed scrotal swelling while undergoing continuous ambulatory peritoneal dialysis.


Asunto(s)
Enfermedades de los Genitales Masculinos/diagnóstico por imagen , Peritoneo/patología , Escroto/patología , Azufre Coloidal Tecnecio Tc 99m , Anciano , Edema/complicaciones , Enfermedades de los Genitales Masculinos/complicaciones , Enfermedades de los Genitales Masculinos/etiología , Enfermedades de los Genitales Masculinos/patología , Humanos , Masculino , Diálisis Peritoneal Ambulatoria Continua/efectos adversos , Cintigrafía
20.
Pan Afr Med J ; 36: 48, 2020.
Artículo en Francés | MEDLINE | ID: mdl-32774624

RESUMEN

Subjects with 47XYY often have normal amounts of gonadotropin-releasing hormone. In these subjects the association between 47XYY and 5-alpha reductase deficiency is rare. The common clinical manifestation of 5-alpha reductase deficiency is male pseudohermaphrodism, rarely it has been revealed by micropenis. Testosterone enanthate does not give good results in patients with 5-alpha reductase deficiency; dihydrotestosterone (DHT) has proven effectiveness in these cases. We report the case of a 17-year old patient, referred to our Hospital with micropenis. The patient didn't respond to two enanthate testosterone therapies. Assessment showed normal testosterone levels, amounts of gonadotropin-releasing hormone at the upper limit of normal, low DHT, elevated testosterone/DHT ratio>20, karyotype 47 XYY. This study highlights that 5-alpha reductase deficiency in these subjects raises the issue of simple coincidence or effective link.


Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Enfermedades de los Genitales Masculinos/etiología , Hipospadias/diagnóstico , Pene/anomalías , Trastornos de los Cromosomas Sexuales/diagnóstico , Errores Congénitos del Metabolismo Esteroideo/diagnóstico , Cariotipo XYY/diagnóstico , Adolescente , Enfermedades de los Genitales Masculinos/genética , Hormona Liberadora de Gonadotropina/sangre , Humanos , Masculino , Testosterona/sangre
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