1/404. Coexistence of primary endocrine deficiencies: a unique case of male hypergonadism associated with hypoparathyroidism, hypoadrenocorticism, and hypothyroidism. The unique combination of male hypogonadism with hypoparathyroidism, hypoadrenalism, hypothyroidism, diabetes mellitus, and alopecia totalis has been documented in a male patient who has been followed over the past 28 years. In this patient, first seen at the age of six for hypoparathyroidism alone, repeated clinical and laboratory endocrine evaluation detected the sequential development of the additional endocrine deficiencies. The presence of abnormal serum antibodies is consistent with an atuoimmune pathogenesis of this syndrome. ( info) |
2/404. Embryonal renal remnant in the gubernaculum testis. We present a rare case of embryonal renal remnant found by chance as a mass in the gubernaculum testis during an operation on a right undescended testis. We discuss the relationship between this tissue and paradidymis or supernumerary kidney. ( info) |
3/404. Unilateral testicular microlithiasis. Testicular microlithiasis is a rare pathology which usually affects both testicles (less than 100 cases have been described in the literature), histologically characterized by numerous calcified deposits situated inside the seminiferous tubules, the diameter of which does not usually exceed 2 mm. The pathogenesis of the phenomenon is not completely clear; it has however been noted that there is a higher incidence in patients affected by cryptorchidism, subfertility, Klinefelter's syndrome and in particular those with testicular neoplasms, although the reason for this remains obscure. The case reported seems atypical in that there is no association with the conditions mentioned above and the finding is monolateral, something which is unusual in the literature reviewed. ( info) |
4/404. splenosis as a cause of testicular pain: laparoscopic management. This is a case report of a 37-year-old man with severe testicular pain unresolved after conventional investigative and therapeutic methods. On the basis of his history of abdominal trauma followed by emergency splenectomy and evidence of functioning splenic tissue on a radionuclide scan, the diagnosis of splenosis was established. Laparoscopic exploration was done, and the initial diagnosis confirmed. Splenic tissue located at the right inguinal ring was removed. Testicular pain abated after the procedure. ( info) |
5/404. An unusual case of ureteral ectopia in the seminal vesicle: diagnosis and surgical management. We report the case of a young man who presented with numerous episodes of ipsilateral epididymitis. Selected imaging studies with consideration of urogenital embryology lead to the rare diagnosis of a dysplastic kidney with ureteral ectopia in the seminal vesicle. After nephroureterectomy and vesiculectomy, convalescence was uneventful. No specific symptoms, equivocal diagnostic findings and the small number of patients limit the surgical experience in diseases of the seminal vesicle. Suprainguinal extravesical extirpation, however, appears to be an excellent operative approach in cases of unilateral seminal vesicle cysts. ( info) |
6/404. Testicular adrenal rests: evidence for luteinizing hormone receptors and for distinct types of testicular nodules differing for their autonomization. We report one patient with 21-hydroxylase deficiency and associated bilateral macro-orchidism caused by nodular hyperplasia of testicular adrenal rests (TAR). The boy, referred to us when 10 years old, was born with bilateral cryptorchidism that was treated unsuccessfully with i.m. injections of human chorionic gonadotropin (hCG) and later on with orchidopexy. He was treated with oral dexamethasone (0.625 mg per day) for the following 13 years. After one year, there was a marked reduction in steroid hormone levels (17-hydroxyprogesterone (17-OH P) from 27.2 to 1.2 nmol/l, testosterone from >104 to 4.8 nmol/l, estradiol (E(2)) from 481 to 33 pmol/l). After the same period of time, both testicular volume and nodularity decreased: from 45 to 18 ml and from numerous to four nodules in the right testis, and from 40 to 13 ml and from numerous to three nodules in the left testis. At the third year, there were transient increases in serum gonadotropins, testicular volume (right testis = 25 ml, left testis = 20 ml) and steroid hormones, including cortisol (serum ACTH and dehydroepiandrosterone sulfate remained suppressed). At the fourth year of follow-up, there were still four nodules in the right testis and three in the left testis. The LH-dependency (which implies possession of LH/hCG receptors) of these nodules was also substantiated by their steroidogenic response to an acute i.m. hCG test. An exogenous ACTH stimulation test increased serum 17-OH P and cortisol. Since these nodules, unlike the majority of those present initially, were not suppressed by the corticosteroid therapy and since they were not detected when the patient returned for control at 23 years of age, they had partial autonomy from ACTH. At 23 years of age, the patient had a single nodule in the right testis (right testis volume = 13 ml, left testis volume = 10 ml), which should have accounted for the consistent difference in size between the two gonads. serum LH was about 7 mU/l and FSH about 23 mU/l. The responsiveness of plasma steroid hormones to hCG had changed quantitatively and qualitatively. Secretion of cortisol was absent, secretion of 17-OH P and testosterone was reduced, and secretion of E(2) was much increased. The ACTH stimulation test showed that serum cortisol did not respond, while the other steroids responded in the order of 17-OH P>E(2)> testosterone. We conclude that there were three different groups of TAR when the patient was already 10 years old: (i) ACTH-sensitive (the majority), (ii) partially ACTH-insensitive but LH/hCG-sensitive (three nodules in the left testis and three in the right testis), (iii) almost entirely ACTH-insensitive and partially hCG-insensitive (a single nodule in the right testis). Probably, the never suppressed gonadotropin levels (presumably due to the bilateral testicular damage subsequent to the cryptorchid state) and the hCG therapy were major etiological factors for the appearance of the second and third population of TAR. ( info) |
7/404. Pronounced cystic transformation of the rete testis. MRI appearance. BACKGROUND: Cystic transformation of the rete testis is a little-known partial or complete obstruction of the spermatozoa-containing secretion of the head of the epididymis. Depending on its severity, either ectasia or a cystic transformation occurs, which spreads to the network of convoluted seminiferous tubules in the mediastinum testis. Findings in contrast-enhanced MRI examinations are characteristic and may help to differentiate this benign entity from malignant neoplasia. The authors present two pronounced cases in different stages, documenting the broad spectrum of possible involvement. ( info) |
8/404. Unusual sonographic appearance of an epidermoid cyst of the testis. Epidermoid cyst of the testis is a rare benign testicular tumor with varied sonographic appearances. We present a case in which two specific ultrasonographic patterns were seen: (1) an "onion ring" configuration of alternating hyperechoic and hypoechoic regions, described previously as being characteristic of this lesion, and (2) a heterogeneous region with multiple punctate hyperechoic foci. ( info) |
9/404. Identification of seminiferous tubule aberrations and a low incidence of testicular microliths associated with the development of azoospermia. OBJECTIVE: To evaluate the use of percutaneous testicular sperm aspiration in the assessment of azoospermia and its association with seminiferous tubule microliths. DESIGN: Case report. SETTING: Tertiary care fertility center in a university hospital. PATIENT(S): Male undergoing infertility evaluation. INTERVENTION(S): Testicular biopsy and percutaneous testicular aspiration. MAIN OUTCOME MEASURE(S): serum hormone analysis, sperm concentration in semen, spermatogenesis in samples from testicular biopsies and aspirations, and microlith composition. RESULT(S): A patient presented for infertility evaluation with a history of severe oligospermia that progressed to azoospermia. The serum testosterone concentration (357 ng/dL) and LH concentration (9.2 mIU/mL) were normal and the serum FSH concentration (18.3 mIU/mL) was elevated. Testicular biopsy results indicated spermatogenic hypoplasia with limited spermatozoa. seminiferous tubules obtained by percutaneous testicular aspiration were structurally aberrant, with multiple diverticula. Microliths averaging 120 microm in diameter were observed within and blocking the seminiferous tubules. The microliths were composed of calcium phosphate (hydroxyapatite) in both the core and peripheral regions. Electron microscopy revealed a high degree of collagen-like material within the peripheral zone. CONCLUSION(S): The presence of seminiferous tubule microliths is associated with the development of azoospermia. In patients with a low incidence of seminiferous tubule microliths and aberrant seminiferous tubule architecture, percutaneous testicular aspiration may provide a diagnostic advantage over testicular biopsy. ( info) |
10/404. Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. Leydig cell aplasia or hypoplasia is a rare form of male pseudohermaphroditism resulting from inadequate fetal testicular Leydig cell differentiation. Affected individuals presented a wide phenotypic spectrum, ranging from complete female external genitalia to males with micropenis. Recessive mutations in the LH receptor gene have been identified as responsible for the condition. The majority of these mutations are point mutations and have been located in exon 11 of the gene. In this study, we report the molecular characterization of the LH receptor gene in three siblings with Leydig cell hypoplasia. After sequencing the 11 exons of the gene, no deleterious mutations were detected in any patient. However, we identified a previously described polymorphism in exon 11. In patients 1 and 3 dna sequencing revealed a C to T substitution at nucleotide 1065; both patients were homozygous GAT/GAT at codon 355. In contrast, patient 2 was homozygous GAC/GAC, whereas the father and one unaffected sister were heterozygous GAC/GAT at this polymorphic site. These results exclude that Leydig cell hypoplasia in this family is due to a mutation in the LH receptor gene and provide evidence that defects in other loci may also result in failure of Leydig cell differentiation, demonstrating, for the first time, that Leydig cell hypoplasia is a genetically heterogeneous condition. ( info) |