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2.
Hum Reprod ; 39(4): 689-697, 2024 Apr 03.
Artículo en Inglés | MEDLINE | ID: mdl-38373213

RESUMEN

STUDY QUESTION: Do different boys with different types of cryptorchidism exhibit different anogenital distances (AGDs)? SUMMARY ANSWER: Length of AGD seemed to differ in different groups of patients with cryptorchidism. WHAT IS KNOWN ALREADY: AGD, which is used as an indicator of prenatal androgen action, tends to be shorter in boys with cryptorchidism compared to unaffected boys. Shorter AGDs have also been reported in boys with hypospadias, in men with poor semen quality, and in men with testicular cancer. STUDY DESIGN, SIZE, DURATION: A prospective descriptive cohort study was performed using data from consecutively selected boys with cryptorchidism (n = 169) operated in a single center over a period of 3 years (September 2019 to October 2022). PARTICIPANTS/MATERIALS, SETTING, METHODS: AGD was measured in 169 infant boys, at 3 to 26 months of age, during anesthesia with a vernier caliper measuring the distance from the anus to the base of the scrotum (AGDAS) and from the anus to the anterior base of the penis (AGDAP) in two body positions according to the methods by 'The Infant Development and the Environment Study' (TIDES) and 'Cambridge Baby Growth Study', resulting in four mean values per patient (TIDES AGDAS/AP and Cambridge AGDAS/AP). Normal values for AGD by age were set by our hospital Department of Growth and Reproduction based on a large cohort of healthy infant boys (n = 1940). Testicular biopsies were performed at orchidopexy as a clinical routine. The germ cell number (G/T) and type Ad spermatogonia number (AdS/T) per cross-sectional tubule of at least 100 and 250 tubules, respectively were measured and related to normal samples. Blood samples were obtained by venipuncture for measuring serum LH, FSH, and inhibin B. They were analyzed in our hospital Department of Growth and Reproduction where the normal reference was also established. Correlations between the four mean AGD measurements for each boy were evaluated by Spearman rank correlation analyses. The AGD measurement of every boy was transferred to the multiple of the median (MoM) of the normal AGD for age and named MoM AGD. MAIN RESULTS AND THE ROLE OF CHANCE: There were 104 boysoperated for unilateral, and 47 boys operated for bilateral, undescended testes, whereas 18 boys had vanished testis including one boy with bilateral vanished testes. Only 6% of cases with vanished testes had a MoM AGD higher than the normal median compared to 32% with undescended testes (P < 0.05). MoM AGD increased with the age at surgery for boys with vanished testis (Spearman r = 0.44), but not for boys with undescended testes (Spearman r = 0.14). Boys with bilateral cryptorchidism had longer AGDs and more often had hypogonadotropic hypogonadism than boys with unilateral cryptorchidism (P < 0.005) and (P < 0.000001). LIMITATIONS, REASONS FOR CAUTION: Although being the largest published material of AGD measurements of infant boys with cryptorchidism, one limitation of this study covers the quite small number of patients in the different groups, which may decrease the statistical power. Another limitation involves the sparse normal reference material on G/T and AdS/T. Finally, there are currently no longitudinal studies evaluating AGD from birth to adulthood and evaluating childhood AGD in relation to fertility outcome. Our study is hypothesis generating and therefore the interpretation of the results should be regarded as exploratory rather than reaching definite conclusions. WIDER IMPLICATIONS OF THE FINDINGS: The study findings are in agreement with literature as the total included group of boys with cryptorchidism exhibited shorter than normal AGDs. However, new insights were demonstrated. Boys with vanished testis had shorter AGDs compared to unaffected boys and to boys with undescended testes. This finding challenges the current concept of AGD being determined in 'the masculinization programming window' in Week 8 to 14 of gestation. Furthermore, boys with bilateral cryptorchidism had longer AGDs and more often had hypogonadotropic hypogonadism than boys with unilateral cryptorchidism, suggesting that the lack of fetal androgen in hypogonadotropic hypogonadism is not that significant. STUDY FUNDING/COMPETING INTEREST(S): No external funding was used and no competing interests are declared. TRIAL REGISTRATION NUMBER: The trial was not registered in an ICMJE-recognized trial registry.


Asunto(s)
Criptorquidismo , Disgenesia Gonadal 46 XY , Hipogonadismo , Neoplasias Testiculares , Testículo/anomalías , Masculino , Embarazo , Lactante , Femenino , Niño , Humanos , Criptorquidismo/cirugía , Andrógenos , Análisis de Semen , Estudios de Cohortes , Estudios Transversales , Estudios Prospectivos
5.
Urology ; 183: 209-211, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37774850

RESUMEN

Splenogonadal fusion (SGF) is a rare congenital anomaly of an aberrant accessory spleen-gonad connection. We present a rare case of continuous splenogonadal fusion in a full-term male with a left undescended testis, multiple congenital limb anomalies, and syndromic facies. Diagnostic laparoscopy revealed the "Echidna Splenule," a snake-like intraperitoneal splenule coursing from the spleen along the left paracolic region and engulfing an atrophic intra-abdominal testis preventing spontaneous descent and distally herniating into the left open internal inguinal ring. The atrophic testis and Echidna Splenule were resected. Splenogonadal fusion should be considered in children with left undescended testis and concomitant limb and facial anomalies.


Asunto(s)
Anomalías Múltiples , Criptorquidismo , Anomalías del Sistema Digestivo , Tachyglossidae , Niño , Animales , Humanos , Masculino , Criptorquidismo/diagnóstico , Criptorquidismo/cirugía , Criptorquidismo/complicaciones , Testículo/diagnóstico por imagen , Testículo/cirugía , Testículo/anomalías , Bazo/anomalías , Escroto , Anomalías Múltiples/diagnóstico
6.
J Med Case Rep ; 17(1): 515, 2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38098099

RESUMEN

BACKGROUND: Accessory splenic tissue is a commonly encountered phenomenon in medical literature. Typically, these accessory spleens are found in close proximity to the main spleen, either in the hilum or within the surrounding ligaments. Nevertheless, it is noteworthy that they can also be located in unusual sites such as the jejunum wall, mesentery, pelvis, and, exceptionally rarely, the scrotum. The first documented case of accessory splenic tissue in the scrotum was reported by Sneath in 1913 and is associated with a rare congenital anomaly called splenogonadal fusion. This report describes an infant who presented with a scrotal mass noted by his mother and after examination, investigations, and surgical exploration, it was revealed to be splenogonadal fusion. CASE DESCRIPTION: An 8-month-old Caucasian male patient presented with a mass in the left testicle and bluish discoloration of the scrotum, which had been incidentally noticed in the previous 2 months. The general physical examination was unremarkable. Other than a palpable scrotal mass that was related to the upper pole of the testis, the rest of examination was unremarkable. Imaging revealed that this mass originated from the tail of the epididymis without infiltrating the testis and tumor markers were normal. On inguinal exploration, a reddish brown 2 × 2 cm mass was found attached to the upper pole and was completely excised without causing any harm to the testis, vessels, or epididymis. Histopathological evaluation confirmed the presence of intratesticular ectopic splenic tissue. CONCLUSION: Although uncommon, splenogonadal fusion can be included in the differential diagnosis of a testicular swelling. Accurate diagnosis allows for appropriate treatment planning which helps to avoid unnecessary radical orchiectomy, which can have a significant impact on the patient's reproductive and psychological wellbeing.


Asunto(s)
Anomalías del Sistema Digestivo , Enfermedades del Bazo , Lactante , Humanos , Masculino , Testículo/diagnóstico por imagen , Testículo/cirugía , Testículo/anomalías , Enfermedades del Bazo/cirugía , Orquiectomía , Escroto/diagnóstico por imagen , Escroto/cirugía , Anomalías del Sistema Digestivo/cirugía
7.
Ann Ital Chir ; 94: 400-403, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37794801

RESUMEN

Crossed Testicular Ectopia (CTE) or transverse testicular ectopia is an anecdotic urogenital anomaly in which both testes are located on the same side, generally associated with a patent processus vaginalis (PPV). The condition can be detected by ultrasound. Nevertheless, the diagnosis is often missed preoperatively and CTE is recognized intraoperatively. Controversy exists regarding management and the role of diagnostic laparoscopy. The surgical technique depends on the anatomy of vas, vessels and testis found on surgical exploration. Diagnostic laparoscopy can be useful to rule out a vanishing testis and detect Müllerian remnants. We present the case of 8-months infant with no palpable testis on the right side and no signs of inguinal hernia, reporting the management and reviewing the scarce existing literature in this regarding. KEY WORDS: Crossed Testicular Ectopia, Laparoscopy, Ectopia, Testis, Transverse Testicular Ectopia, Urogenital Abnormalities.


Asunto(s)
Coristoma , Criptorquidismo , Hernia Inguinal , Laparoscopía , Masculino , Lactante , Humanos , Testículo/diagnóstico por imagen , Testículo/cirugía , Testículo/anomalías , Criptorquidismo/complicaciones , Criptorquidismo/diagnóstico , Criptorquidismo/cirugía , Coristoma/diagnóstico por imagen , Coristoma/cirugía , Ultrasonografía , Hernia Inguinal/diagnóstico por imagen , Hernia Inguinal/cirugía , Hernia Inguinal/complicaciones
8.
J Med Case Rep ; 17(1): 69, 2023 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-36843109

RESUMEN

BACKGROUND: Crossed testicular ectopia or transverse testicular ectopia is an extremely rare urogenital anomaly. In this condition, on average at 4 years of age the testes migrate through the inguinal canal and one or both testes may turn up in the abdomen, inguinal region, or in the hemiscrotum, with an empty contralateral hemiscrotum. Our case report documents transverse testicular ectopia in a 5-year-old boy who presented with right inguinal hernia and nonpalpable left testis. He underwent previous right herniorrhaphy at the age of 1 year. CASE PRESENTATION: A 5-year-old Iranian boy was diagnosed with a right inguinal hernia. He underwent right inguinal herniorrhaphy at the age of 1 year. For this case report, the hernia symptoms had returned. Both testicles were palpated in the right scrotum, an ultrasound examination also revealed both testicles to be present in the right scrotum, and a hernia sac located in the right inguinal region with an internal ring. The patient was recommended to undergo a surgical reconstruction. Surgical reconstruction was performed by crossing the left testis in the transseptal orchiopexy technique. CONCLUSION: In patients with cryptorchidism on one side and an inguinal hernia on the other side, the surgeon must consider a rare condition known as transverse testicular ectopia. Sonography can be helpful for diagnosing cases where transverse testicular ectopia is suspected, evaluating other anomalies, and selecting the most appropriate treatment.


Asunto(s)
Criptorquidismo , Hernia Inguinal , Masculino , Humanos , Preescolar , Hernia Inguinal/complicaciones , Hernia Inguinal/diagnóstico por imagen , Hernia Inguinal/cirugía , Irán , Testículo/diagnóstico por imagen , Testículo/cirugía , Testículo/anomalías , Criptorquidismo/complicaciones , Criptorquidismo/diagnóstico por imagen , Criptorquidismo/cirugía , Orquidopexia/métodos
9.
Andrologia ; 54(11): e14637, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36357339

RESUMEN

Transverse testicular ectopia is a rare anomaly characterized by both testes descending through a single inguinal canal. The objective of this study was to investigate the pathogenesis, diagnosis, and treatment of transverse testicular ectopia (TTE) with persistent Mullerian duct syndrome (PMDS), and to deepen the understanding of the disease in clinical. A retrospective analysis of the clinical manifestation, diagnosis, and treatment of two children suffering from TTE with PMDS was conducted. Previous studies on the characteristics, diagnosis, and treatment of this disease were reviewed. The two patients were treated with laparoscopy-assisted transseptal orchidopexy-inguinal evaluation. After the surgery, the two patients recovered well. The follow-up visits were done 3 months after the operation. An ultrasound examination confirmed that the two patients had testes in the orthotopic position and normal size. TTE with PMDS is an exceedingly rare disease. The patients manifested cryptorchidism on one side; contralateral inguinal hernia was suspected. Detailed physical and ultrasound examinations before the operation are the key to the early diagnosis of TTE. Laparoscopic evaluation is helpful for the diagnosis and finding of other abnormalities. Surgical treatment is the only method to cure the disease; long-term follow-up is needed after TTE operation.


Asunto(s)
Criptorquidismo , Trastorno del Desarrollo Sexual 46,XY , Masculino , Niño , Humanos , Estudios Retrospectivos , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/cirugía , Orquidopexia/efectos adversos , Criptorquidismo/diagnóstico , Criptorquidismo/diagnóstico por imagen , Testículo/diagnóstico por imagen , Testículo/cirugía , Testículo/anomalías
10.
Arch Pediatr ; 29(5): 404-406, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35644718

RESUMEN

Perineal ectopic testis (PET) is a rare form of testicular migration abnormality. We report a case of neonatal PET diagnosis and early management. In reported cases, diagnosis is often late, well after the age of 1 year, and surgery is conventionally performed by an inguinal and scrotal approach. Here, surgery consisted of scrotal orchidopexy, with placement in the dartos, at the age of 6 months. Follow-up was uncomplicated. This approach has not been reported for this form of ectopy, but seems perfectly suitable. There is no advantage to delaying the treatment of this type of ectopy.


Asunto(s)
Criptorquidismo , Orquidopexia , Criptorquidismo/diagnóstico , Criptorquidismo/cirugía , Humanos , Lactante , Recién Nacido , Masculino , Perineo/cirugía , Escroto/cirugía , Testículo/anomalías , Testículo/diagnóstico por imagen , Testículo/cirugía
11.
J Pediatr Endocrinol Metab ; 35(9): 1215-1221, 2022 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-35670320

RESUMEN

OBJECTIVES: We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. CASE PRESENTATION: We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7 months and 1 year 6 months, respectively, with abnormal sexual development, micropenis and cryptorchidism. Genetic analysis revealed a homozygous deletion of approximately 4 bp encompassing exon 10 of the LHR gene in the two brothers indicating autosomal recessive inheritance. An hCG stimulation test induced testosterone secretion within the normal range. Subsequently, a treatment with enanthate of testosterone was started, with an increase in the length of the penis. CONCLUSIONS: Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the LHCGR gene in two Moroccan brothers in whom the clinical features and the molecular diagnosis were correlated.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Receptores de HL , Trastorno del Desarrollo Sexual 46,XY/genética , Homocigoto , Humanos , Masculino , Mutación , Receptores de HL/genética , Receptores de HL/metabolismo , Eliminación de Secuencia , Testículo/anomalías , Testosterona
12.
J Assoc Physicians India ; 70(4): 11-12, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35443335

RESUMEN

Male reproductive functions are governed by hypothalamic pituitary testicular axis. If any component of this axis malfunctions, then hypogonadism will develop which is characterized by ill-defined secondary sexual features and low serum testosterone. The common patterns seen are primary and secondary testicular failure in the young; and late onset hypogonadism in the elderly. All such cases can be virilized and managed by androgen supplementation. Spermatogenesis can be induced by use of appropriate gonadotropins in selected cases. The aim of the study was to find out the pattern, management and outcome of male hypogonadism. MATERIAL: It was a prospective questionnaire based observational study, carried out on infertile hypogonadic males, attending medicine outdoor at medical college hospital from January 2015 to December 2020. There were 50 males with hypogonadic features, cases of late onset of hypogonadism were excluded. Sexual maturity rating, semen analysis, serum testosterone and FSH level were estimated in all patients at baseline and at 6 months duration of treatment. Testicular biopsy, Karyotyping and MRI brain were performed in selected cases. Azoospermic patients having hypogonadotropic hypogonadism were treated with long-acting testosterones and gonadotropins. OBSERVATION: The study subjects were infertile azoospermic males. On the basis of serum FSH and testosterone levels, they were classified into two groups. Group A (n=42) cases were hypergonadotropic hypogonadism or primary testicular failure; of these 32 were Klinefelter syndrome (XXY), 7 chronic orchitis and 3 empty scrotal syndrome including one case of anorchia. These patients also developed other systemic illnesses in addition to hypogonadism. Group B (n=8) hypogonadotropic hypogonadism or secondary testicular failure; of these 2 were Kallman syndrome and the rest were idiopathic. After testosterone replacement all patients were virilized and there was marked improvement in libido and androgenization. CONCLUSION: The study brings out that primary testicular failure is more common than secondary testicular failure. Both pattern of hypogonadism should receive lifelong androgen replacement therapy; otherwise, they will be a basket of multiple systemic disorders. Presently testosterone undecanoate once in every three months is the agent of choice.


Asunto(s)
Azoospermia , Hipogonadismo , Anciano , Femenino , Hormona Folículo Estimulante , Disgenesia Gonadal 46 XY , Gonadotropinas , Humanos , Hipogonadismo/tratamiento farmacológico , India/epidemiología , Masculino , Estudios Prospectivos , Testículo/anomalías , Testosterona/uso terapéutico , Resultado del Tratamiento
13.
Eur J Obstet Gynecol Reprod Biol ; 272: 193-197, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35366614

RESUMEN

INTRODUCTION: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene. MATERIALS AND METHODS: The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method. FINDINGS: In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A). CONCLUSION: In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.


Asunto(s)
Amenorrea , Receptores de HL , Amenorrea/genética , Trastorno del Desarrollo Sexual 46,XY , Femenino , Humanos , Masculino , Mutación , Receptores de HL/genética , Estudios Retrospectivos , Testículo/anomalías
14.
Ann Endocrinol (Paris) ; 83(3): 155-158, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35489414

RESUMEN

Male infertility contributes to 50% of all cases of infertility. The main cause is low quality and quantity of sperm. In humans, spermatogenesis starts at the beginning of puberty and lasts lifelong. It is under the control of FSH and testicular androgens, and mainly testosterone (T), and therefore requires a normal gonadotroph axis, intratesticular T production by Leydig cells and functional androgen receptors (ARs) within testicular Sertoli cells. Various clinical cases illustrate the roles of T in human spermatogenesis. Men with complete congenital hypogonadotropic hypogonadism (HH) are usually azoospermic. Treatment by exogenous testosterone injection and FSH is not able to produce sperm. However, combined treatment with FSH and hCG is effective. This example shows that intratesticular T plays a major role in spermatogenesis. Furthermore, testicular histology of men with LH receptor mutations shows Leydig cell hypoplasia/agenesis/dysplasia with conserved Sertoli cell count. The sperm count is reduced, as in males with partial inactivating mutation of the androgen receptor. Some protocols of hormonal male contraception or exogenous androgen abuse induce negative feedback in the hypothalamic pituitary axis, decreasing FSH, LH and T levels and inducing sperm defects and testicular atrophy. The time to recovery after cessation of drug abuse is around 14 months for sperm output and 38 months for sperm motility. In summary, abnormal androgen production and/or AR signaling impairs spermatogenesis in humans. The minimal level of intratesticular T for normal sperm production is a matter of debate. Interestingly, some animal models showed that completely T-independent spermatogenesis is possible, potentially through strong FSH activation. Finally, recent data suggest important roles of prenatal life and minipuberty in adult spermatogenesis.


Asunto(s)
Andrógenos , Hormona Folículo Estimulante , Animales , Trastorno del Desarrollo Sexual 46,XY , Humanos , Masculino , Motilidad Espermática , Espermatogénesis , Testículo/anomalías , Testosterona/farmacología
15.
Int. braz. j. urol ; 48(2): 336-346, March-Apr. 2022. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1364946

RESUMEN

ABSTRACT Background: To analyze the incidence of epididymal anomalies (EAs) associated to spermatic obstruction in patients with undescended testis (UT) according to testicular position and age. Materials and Methods: We studied 87 patients (110 testis) with cryptorchidism and analyzed the presence of EAs correlated with the testicular position, age and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis we considered three situations: (a) Normal pattern: the epididymis was attached to the testis at the head and tail and epididymis totally attached to the testis; (b) EAs: when the epididymis was attached to the testis only at the head (Figure-1A) and (c) EAs associated to spermatic obstruction: epididymis was attached to the testis only at the tail (Figure-1B) and when there are no visible connection between testis and epididymis (Figure-1C). We used the Wilcoxon-Mann-Whitney test and the Chi-square test for contingency analysis (p <0.05). Results: The mean age of the patients was 5.18 years (SD=2.867). Of 110 testes analyzed, 14 were abdominal (12.72%); 83 inguinal (75.45%) and 13 suprascrotal (11.81%). Normal relationships between testis and epididymis were observed in 54 patients (62.1%) with no significant differences in relation to the patient's age (p=0.666). Epididymal tail disjunction was observed in 23 patients (26.44%), with no significant differences in relation to age (p=0.59). EAs associated to spermatic obstruction were observed in 16 patients (18.4%), also with no significant differences in relation to age (p=0.684). We did not observe significant correlation between the testis position and the incidence of EAs (p=0.119). We did not observe significant correlations between patency of the PV (64.7%) and incidence of EAs (p=0.742). Conclusions: Epididymal anomalies associated with spermatic obstruction are present in almost 20% of undescended testes, without significant correlation with age, testicular position and patency of the PV. This information needs to be correlated to the infertility risk of this congenital anomaly.


Asunto(s)
Humanos , Masculino , Preescolar , Criptorquidismo/complicaciones , Testículo/anomalías , Incidencia , Epidídimo/anomalías , Conducto Inguinal
16.
J Pediatr Adolesc Gynecol ; 35(5): 558-561, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35296452

RESUMEN

OBJECTIVE: Infertility is common among individuals with differences in sex development (DSD), and affected individuals and families desire fertility counseling. This survey sought to assess fertility knowledge and experiences with fertility counseling among DSD specialists for DSD conditions excluding congenital adrenal hyperplasia. DESIGN, SETTING, PARTICIPANTS, AND MEASURES: A survey was iteratively developed by members of the DSD-Translational Research Network (DSD-TRN) Fertility Preservation Workgroup and disseminated to 5 clinician groups: the DSD-TRN, the Society for Pediatric Psychology DSD Special Interest Group (SIG), the Pediatric Endocrine Society DSD-SIG, the Societies for Pediatric Urology, and the North American Society for Pediatric and Adolescent Gynecology. RESULTS: Completed surveys (n = 110) were mostly from pediatric urology (40.3%), gynecology (25.4%), and endocrinology (20.9%) specialists. Most (73/108, 67.6%) respondents reported discussing fertility potential. Sixty-seven responded to questions regarding fertility potential. Many participants answered questions about the presence of a uterus in individuals with 46,XY complete gonadal dysgenesis and about the potential for viable oocytes in individuals with 46,XY partial gonadal dysgenesis incorrectly. Comments acknowledged the need for further education on fertility in individuals with DSD. CONCLUSIONS: Many DSD providers have some knowledge of fertility potential, but knowledge gaps remain. Experts expressed a desire for education and accessible resources to counsel effectively about fertility potential for individuals with DSD.


Asunto(s)
Trastornos del Desarrollo Sexual , Preservación de la Fertilidad , Disgenesia Gonadal 46 XY , Femenino , Humanos , Desarrollo Sexual , Testículo/anomalías
17.
BMC Urol ; 22(1): 26, 2022 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-35197023

RESUMEN

BACKGROUND: Ductus deferens may manifest in a variety of anomalies such as its absence, duplication, ectopy, or diverticulum. Ectopic seminal tract opening has two main types, ectopic ejaculatory duct opening, and ectopic vas deferens opening. Generally, ductus deferens anomalies affect approximately 0.05% of the population. Patients may be asymptomatic or complaining of urinary tract infections and/or epididymitis. Most of these cases are associated with renal dysplasia. To confirm the diagnosis Cystourethroscopy catheterization and retrograde urethrogram should be performed, but the definitive diagnosis is done by vasography. The definitive treatment is complete surgical resection of the pathological urogenital connection. This case is commonly discovered while exploring other findings such as testicular torsion and inguinal hernia. CASE PRESENTATION: We report a rare case of an 11-year-old male who presented with gross hematuria and numerous congenital malformations including a left polydactyly clubfoot, polyorchidism, with several surgical procedures, and left kidney dysgenesis. Surgery was performed for a left inguinal hernia, during which a third undescended testicle was discovered incidentally and was eradicated. A retrograde urethrogram was performed to establish the diagnosis. A fistula- that is connected with the left ureter- was resected. The histopathologic findings confirmed the diagnosis of true duplication of the Vas deferens, with communication between the ureter and the vas deferens. By follow-up, the kidney function tests were within normal limits. CONCLUSIONS: This case report aims to highlight the early diagnosis and management of the duplicated vas deferens and the associated congenital malformations to improve the prognosis and kidney function and to avoid long-term complications.


Asunto(s)
Anomalías Múltiples , Testículo/anomalías , Fístula Urinaria/diagnóstico por imagen , Conducto Deferente/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/cirugía , Niño , Pie Equinovaro , Cistoscopía , Conductos Eyaculadores/anomalías , Fístula/complicaciones , Hematuria/etiología , Hernia Inguinal/complicaciones , Hernia Inguinal/cirugía , Humanos , Riñón/anomalías , Riñón/diagnóstico por imagen , Masculino , Uréter/diagnóstico por imagen , Ureteroscopía , Fístula Urinaria/cirugía , Conducto Deferente/diagnóstico por imagen
18.
Best Pract Res Clin Endocrinol Metab ; 36(1): 101619, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-35193821

RESUMEN

Cryptorchidism, i.e., undescended testis, is one of the most common genital malformations in newborn male babies. The birth rate of cryptorchidism varies from 1.6 to 9.0 %. Etiology of disrupted testicular descent is complex and predisposing causes include genetic, hormonal, environmental, lifestyle and maternal factors. Testicular descent occurs in two major steps and testicular hormones and normal function of hypothalamic-pituitary-testicular axis are important for normal descent. Several gene mutations are associated with syndromic cryptorchidism but they are rarely found in boys with isolated undescended testis. Testicular regression can also cause an empty scrotum. Normal male genital phenotype indicates that the boy has had functioning testis during development. Torsion of the testis can cause testicular regression but in many cases the reason for vanishing testis remains elusive. In this narrative review we discuss genetics of cryptorchidism and testicular regression.


Asunto(s)
Criptorquidismo , Disgenesia Gonadal 46 XY , Criptorquidismo/genética , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Humanos , Masculino , Mutación , Testículo/anomalías
19.
Ann R Coll Surg Engl ; 104(2): 32-34, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35100848

RESUMEN

Splenogonadal fusion is a rare benign congenital anomaly in which there is an abnormal connection between the gonad and the spleen. It was first described over 100 years ago with limited reports in the literature since then. Its similarity in presentation to testicular neoplasia poses a significant challenge in diagnosis and management, often resulting in radical orchidectomy. We present the case of a 31-year-old man who presented with a rapidly growing left-sided testicular mass and suspicious ultrasound findings; histology from the subsequent radical inguinal orchidectomy showed findings consistent with splenogonadal fusion. We describe points for consideration in the clinical history, examination and imaging that could suggest splenogonadal fusion, including preoperative technetium-99m-sulfur colloid imaging and intraoperative frozen section evaluation, which may confirm the diagnosis and prevent unnecessary orchidectomy.


Asunto(s)
Bazo/anomalías , Testículo/anomalías , Adulto , Humanos , Masculino , Orquiectomía , Bazo/diagnóstico por imagen , Testículo/diagnóstico por imagen , Testículo/cirugía , Tomografía Computarizada por Rayos X , Ultrasonografía , Procedimientos Innecesarios
20.
Int Braz J Urol ; 48(2): 336-346, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35170897

RESUMEN

BACKGROUND: To analyze the incidence of epididymal anomalies (EAs) associated to spermatic obstruction in patients with undescended testis (UT) according to testicular position and age. MATERIALS AND METHODS: We studied 87 patients (110 testis) with cryptorchidism and analyzed the presence of EAs correlated with the testicular position, age and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis we considered three situations: (a) Normal pattern: the epididymis was attached to the testis at the head and tail and epididymis totally attached to the testis; (b) EAs: when the epididymis was attached to the testis only at the head (Figure-1A) and (c) EAs associated to spermatic obstruction: epididymis was attached to the testis only at the tail (Figure-1B) and when there are no visible connection between testis and epididymis (Figure-1C). We used the Wilcoxon-Mann-Whitney test and the Chi-square test for contingency analysis (p <0.05). RESULTS: The mean age of the patients was 5.18 years (SD=2.867). Of 110 testes analyzed, 14 were abdominal (12.72%); 83 inguinal (75.45%) and 13 suprascrotal (11.81%). Normal relationships between testis and epididymis were observed in 54 patients (62.1%) with no significant differences in relation to the patient's age (p=0.666). Epididymal tail disjunction was observed in 23 patients (26.44%), with no significant differences in relation to age (p=0.59). EAs associated to spermatic obstruction were observed in 16 patients (18.4%), also with no significant differences in relation to age (p=0.684). We did not observe significant correlation between the testis position and the incidence of EAs (p=0.119). We did not observe significant correlations between patency of the PV (64.7%) and incidence of EAs (p=0.742). CONCLUSIONS: Epididymal anomalies associated with spermatic obstruction are present in almost 20% of undescended testes, without significant correlation with age, testicular position and patency of the PV. This information needs to be correlated to the infertility risk of this congenital anomaly.


Asunto(s)
Criptorquidismo , Preescolar , Criptorquidismo/complicaciones , Epidídimo/anomalías , Humanos , Incidencia , Conducto Inguinal , Masculino , Testículo/anomalías
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