We report a 27 -year-old male referred because of hypergonadotropic hypogonadism with low testosterone and azoospermia. At 23 years of age, he underwent an excision of a hypoechoic 0.7 cm nodule of the left testicle. The pathological diagnosis was a Leydig cell tumor. In the right testicle, there were three nodules at ultrasound, the biggest measuring 0.6 cm. Four years later, the nodules in the right testicle were still present and the larger nodule was excised. The biopsy showed tubules with only Sertoli cells in the perinodular zone. Diffuse and nodular hyperplasia of the Leydig cells was found in the interstitium. The pathological diagnosis was Sertoli syndrome with severe hyperplasia of the Leydig cells. With testosterone therapy, LH decreased, and the nodules disappeared. Thereafter, upon interrupting therapy, LH increased, and the nodules reappeared in two occasions. Resuming testosterone treatment, the nodules disappeared again, suggesting a Leydig cell hyperplasia dependent on chronic LH stimulation.

Testicular Leydig cell tumor (LCT) is a rare subtype of testicular neoplasms that occurs in the interstitial tissue of testes, accounting for 1-3% of total testicular masses removed annually. We report a case of 70-year-old man diagnosed as testicular LCT. This report demonstrates a testicular LCT with intratumoral and non-tumorous testicular parenchymal enhancement in the affected testis, which should be considered characteristic findings of LCT.
Ultrasonography showed a hypoechoic mass. On magnetic resonance imaging, the tumor showed low signal intensity comparable to the surrounding testicular tissue on T1-weighted images (T1WI) and low signal intensity on T2-weighted images (T2WI). On gadolinium contrast-enhanced T1WI (CE-T1WI), the tumor showed a rapid and marked wash-in and subsequent prolonged washout. The spared, non-tumorous testicular parenchyma showed slow and progressive enhancement in the early phase, which was as strong as or stronger than that of the mass in the delayed phase. The patient underwent right orchiectomy.
Pathologically, the tumor was diagnosed as a testicular Leydig cell tumor (LCT). Leydig cell proliferation was observed with well-developed microvessels, atrophy of the seminiferous tubules, and stromal edema in the non-tumorous testicular parenchyma. Leydig cells in the non-tumorous parenchyma were positive for estrogen receptors.
Since the contrast findings in the non-tumorous testicular parenchymal region on CE-T1WI likely match the histopathological features of LCT, our case suggests that the presence of non-tumorous testicular parenchymal enhancement on imaging might indicate a diagnosis of LCT.

Sertoli-Leydig Cell Tumors (SLCT) are very rare neoplasms of the ovary (0.2%) and they belong to the group of sex cord-stromal tumors. Of these, 20% of the cases show heterologous elements. We report a case of a 22-year-old woman who presented with complaints of lower abdominal pain and secondary amenorrhea for 10 months. Physical examination revealed right lower abdominal tenderness and fullness. Imaging showed a right ovarian mass. She underwent right salpingo-oophorectomy with bilateral pelvic lymphadenectomy and omentectomy. Microscopic examination revealed a neoplasm with varied histomorphological patterns. The predominant pattern was an atypical proliferative mucinous tumor with foci of microinvasion. The other component was that of moderately differentiated Sertoli-Leydig Cell Tumor. Focal areas resembling carcinoid were also noted. Immunohistochemistry was performed and the Sertoli-Leydig Cells were positive for CD56, calretinin, inhibin, vimentin, and ER. The glandular component was positive for CK20, EMA, CEA, and CDX2. Synaptophysin and chromogranin were positive within nests resembling carcinoid. With the given histomorphological features and immunohistochemistry findings, a diagnosis of moderately differentiated Sertoli-Leydig Cell Tumor of the ovary with associated mucinous carcinoma and carcinoid was rendered. The presence of heterologous elements in SLCTs has been reported to be associated with poor prognosis.

OBJECTIVE: To analyze the differences in the population of perivascular and peritubular Leydig cells (LC) and the number of Reinke\'s crystals (RCs) in the testicles of infertile men with non-obstructive and obstructive azoospermia.
METHODS: This retrospective case-control study was conducted on the testicle tissue of infertile men with obstructive (n=10) and those with non-obstructive azoospermia (n=100). Stereological analysis was performed on 7-μm paraffin sections. Measurements were carried out by using the Weibel multipurpose test system.
RESULTS: Patients with non-obstructive azoospermia had a higher total/absolute number of LCs in the perivascular space (P=0.034). In these patients, no significant difference was found in the total and absolute number of RCs between the peritubular and perivascular space. Patients with obstructive azoospermia had around three times higher absolute number of RCs in both the peritubular and perivascular spaces (P=0.002; P<0.001) than non-obstructive group.
CONCLUSIONS: Our results suggest that in patients with non-obstructive azoospermia LCs migrated or had different densities in the peritubular and perivascular space compared with patients with obstructive azoospermia. Moreover, the lower number of RCs could imply their utilization by LCs in testosterone production.

BACKGROUND: Yolk sac tumors (YSTs) are rare malignancies that originate from germ cells and rarely present with endocrine symptoms. We report a case of a 13-year-old girl with a YST manifesting as virilization.
METHODS: A 13-year-old girl was diagnosed with a YST with endocrine symptoms because of Leydig cells in the stroma, which were identified using hematoxylin and eosin staining and immunohistochemistry.
CONCLUSIONS: This case suggests that clinicians should consider the possibility of YST when encountering patients with symptoms of virilization. When a YST is found to have endocrine function, a functioning stroma could present. Immunohistochemistry is useful for identifying stromal cells and performing a differential diagnosis.

Androgen insensitivity syndrome (AIS) is a very uncommon genetic disorder that results from the resistance of androgen receptor (AR) to androgen, which influences the formation of the male genitalia and in turn presents with female phenotype. Surgical resection of undesceaded testicle and different kinds of genitoplasty are crucial methods to correct the deformity of reproductive system, as well as hormone replacement therapy, which is an essential therapy for postoperational rehabilitation in AIS patients. A 43-year-old patient, who was socially female, was first admitted to gastroenterology department due to recurrent ascites and occasional abdominal pain with unknown origin. Taking physical examination, ultrasonography, karyotype analysis and sex hormone levels into consideration, the overall manifestations revealed the typical clinical features of complete androgen insensitivity syndrome. After that she was transferred to urology department for laparoscopic gonadectomy. During the surgery, doctors found that there was a vesical fistula on the upper wall near the conjunction between the bladder and ligamenta umbilicale medium, which explained the recurrent ascites for more than 4 years. After resecting the testicles and the tissues around the vesical fistula for histopathology, the result suggested Sertoli cell adenoma, hyperplastic Leydig cells and urothelium atypical hyperplasia. Hormone replacement therapy was given right after discharge. The hormone levels of follicle-stimulating hormone, luteinizing hormone, estradiol and progesterone were modulated by the dysfunction of androgen production after gonadectomy and hormone replacement therapy together with psychotherapy could stabilize her hormone levels and improve the quality of her life. The patient was suspicious of AIS family history and the pedigree was made to analyze her family which was possibly X-linked recessive pattern. We propose three possible hypotheses of the fistula, which are direct surgical injury, recurrence of bladder cancer and congenital urachal anomalies. But whether it is relevant between urachal anomalies and AIS is yet to be discovered.

BACKGROUND: Leydig cell hyperplasia (LCH) and Leydig cell tumours (LCTs) in children are rare, typically presenting with precocious puberty. Previously, orchidectomy was the routine management; however, more recently, testis-sparing surgery has been performed with good results. We present a series of unusual presentations of LCH, raising new management questions, and a review of the literature regarding LCH and LCT in children.
METHODS: We performed a literature search using Ovid Medline, PubMed, and Google Scholar, producing 456 articles. We reviewed all case reports and series containing paediatric patients, and relevant review articles.
RESULTS: We report three cases of LCH, two of which were incidental findings. All three cases underwent testis-sparing surgery. In the literature there were seven cases of LCH and 101 cases of LCT in prepubertal children. The most common presentation was with precocious puberty. Three cases of LCH and more than two-thirds of LCTs were managed with orchidectomy and overall only 11% of the cases underwent testes-sparing surgery (24% did not specify operative management). There were no reports of recurrence or malignancy.
CONCLUSIONS: Our case series presents three new clinical presentations of LCH that have not previously been reported in the literature: one of incomplete precocious puberty and two with incidental findings on ultrasound in asymptomatic children. Historically, children with the classic presentation of precocious puberty and a testicular lesion have been managed with orchidectomy. Nowadays, many clinicians advocate testes-sparing surgery given there have been no cases of malignancy. In children with no clinical or biochemical signs of precocious puberty, lesions identified on ultrasound can be safely monitored for a period of time. However, if the lesion does not regress, excisional biopsy is recommended to establish the diagnosis, ideally before the onset of puberty.
CONCLUSIONS: Leydig cell hyperplasia and tumours in pre-pubertal children are benign. Testes-sparing surgery with regular follow-up appears to be safe management.

With each new microarray or RNA-seq experiment, massive quantities of transcriptomic information are generated with the purpose to produce a list of candidate genes for functional analyses. Yet an effective strategy remains elusive to prioritize the genes on these candidate lists. In this review, we outline a prioritizing strategy by taking a step back from the bench and leveraging the rich range of public databases. This in silico approach provides an economical, less biased, and more effective solution. We discuss the publicly available online resources that can be used to answer a range of questions about a gene. Is the gene of interest expressed in the system of interest (using expression databases)? Where else is this gene expressed (using added-value transcriptomic resources)? What pathways and processes is the gene involved in (using enriched gene pathway analysis and mouse knockout databases)? Is this gene correlated with human diseases (using human disease variant databases)? Using mouse fetal testis as an example, our strategies identified 298 genes annotated as expressed in the fetal testis. We cross-referenced these genes to existing microarray data and narrowed the list down to cell-type-specific candidates (35 for Sertoli cells, 11 for Leydig cells, and 25 for germ cells). Our strategies can be customized so that they allow researchers to effectively and confidently prioritize genes for functional analysis.

Leydig cell nodular hyperplasia (LCNH) is a lesion that is less characterized than the familiar Leydig cell tumors. The paracrine effects of these lesions on adjacent gonadal stroma have not been widely documented. We present two cases of precocious puberty in pre-pubertal boys found to have a single LCNH with adjacent focal maturation of the seminiferous tubules. Blood tests showed elevated serum testosterone and dehydroepiandrosterone (DHEAS). Ultrasound revealed unilateral testicular enlargement with irregular echogenicity. Radical orchiectomy was performed. Histologically Leydig cell nodular proliferation without destruction of surrounding tubules was seen. Mature seminiferous tubules undergoing spermatogenesis were noted adjacent to the lesion, while away from the lesion seminiferous tubules were as expected in pre-pubescent boys. These cases emphasize the potential presence of both paracrine and endocrine effects in Leydig cell nodular hyperplasia. However, instances of the endocrine effects of hyperplastic Leydig cell lesions are more widely reported than the paracrine effects.

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