Inguinal Testes Research Articles

Bilateral Robotic-Assisted Laparoscopic Orchiopexy in a Young Adult with Inguinal Testes and Closed Internal Rings

Bilateral Robotic-Assisted Laparoscopic Orchiopexy in a Young Adult with Inguinal Testes and Closed Internal Rings

Management strategy for high inguinal testis in a 9-year-old child: A case report

Abstract The high inguinal undescended testis is a unique clinical entity necessitating additional surgical procedures. Since the testis cannot be implanted in the scrotal sac due to the short testicular artery, transection of the artery (Fowler and Stephens procedure) is a viable alternative. The Fowler and Stephens procedure, either one- or two-stage, has remarkably good success rates, up to 80% for one-stage and 85% for two-stage. We present a 9-year-old child with high inguinal testis who underwent a one-stage open Fowler and Stephens orchiopexy to bring the testis into the scrotum.

Testicular expression of heat SHOCK proteins 60, 70, and 90 in cryptorchid horses

Heat shock proteins are the most evolutionarily conserved protein families induced by stressors including hyperthermia. In the context of pathologies of the male reproductive tract, cryptorchidism is the most common genital defect that compromises the reproductive potential of the male because it induces an increase in intratesticular temperature. In equine species, cryptorchidism affects almost 9 % of newborns and few studies have been carried out on the molecular aspects of the retained testis. In this study, the expression pattern of HSP60, 70, and 90 in abdominal and inguinal testes, in their contralateral descended normally testes, and in testes of normal horses were investigated by Western blot and immunohistochemistry. The histomorphological investigation of retained and scrotal testes was also investigated. The seminiferous epithelium of the retained testes showed a vacuolized appearance and displayed a completely blocked spermatogenesis for lacking meiotic and spermiogenetic cells. On the contrary, the contralateral scrotal testes did not show morphological damage and the seminiferous epithelium displayed all phases of the spermatogenetic cycle as in the normal testes. The morphology of Leydig cells was not affected by the cryptorchid state. Western blot and immunohistochemistry evidenced that equine testis (both scrotal and retained) expresses the three investigated HSPs. More in detail, the Western blot evidenced that HSP70 is the more expressed chaperone and that together with HSP90 it is highly expressed in the retained gonad (P < 0.05). The immunohistochemistry revealed the presence of the three HSPs in the spermatogonia of normal and cryptorchid testes. Spermatogonia of retained testes showed the lowest expression of HSP60 and the highest expression of HSP90. Spermatocytes, spermatids of scrotal testes, and the Sertoli cells of retained and scrotal testes did not display HSP60 whereas expressed HSP70 and HSP90. These two proteins were also localized in the nucleus of the premeiotic cells. The Leydig cells displayed the three HSPs with the higher immunostaining of HSP70 and 90 in the cryptorchid testes. The results indicate that the heat stress condition occurring in the cryptorchid testis influences the expression of HSPs.

Primary testicular lymphoma in undescended testis of a middle-age man: a case report

Background: Primary testicular lymphoma (PTL) is an uncommon and aggressive form of extra-nodal non-Hodgkin lymphoma (NHL), accounting for &lt;5.0% of testicular malignancies and 1.0% to 2.0% of NHL cases with a median age at diagnosis of 66 to 68 years. PTL accounts for 1–9% of testicular malignancies and 1–2% of NHLs. There are a handful of described lymphomas in the literature affecting normally positioned testis of aged men, yet none were reported in a cryptorchid middle-aged man. PTL is an extremely aggressive malignancy with poor progression-free survival and overall survival. Case presentation: A 47-year-old man presented to the urology clinic complaining of multiple painless swellings in the neck and groins. He also complains of back pain, drenching night sweats, a swollen right lower limb, constipation, anorexia, weight loss, and occasional vomiting. The illness's duration is 2 months. He had a right inguinal testis. Histology examination of the excised testis and lymph nodes revealed an advanced “diffuse large beta-cell lymphoma” in both. The patient was referred for oncology care. Conclusion: It is an extremely rare case of Diffuse Large B-Cell Lymphoma (DLBCL) in the undescended testis of a middle-aged man. To the best of our knowledge, this is the first published case of its kind about the tumor's type, testis anomaly, and patient's age.

Cryptorchidism in the sub-Antarctic fur seal Arctocephalus tropicalis

The prevalence of cryptorchidism, a condition when one or more testes failed to move to their proper position(s), was evaluated for sub-Antarctic fur seals from Gough Island, South Atlantic. The reproductive tracts of male fur seals (n = 123) were examined and reproductive organs measured in a previous study. Only one fur seal, a 5-year-old sexually mature male, had one inguinal testis on the right side, and a small abdominal one situated below the kidney on the same side. A matching contralateral testis could not be located, neither in the scrotum or inguinal canal nor within the abdominal cavity. Amongst pinnipeds, cryptorchids rarely occurred in northern fur seals (0.01% to 0.02% prevalence), harbour seals (undetermined prevalence) and in sub-Antarctic fur seals (0.8% prevalence). Inconsequential on a population level, the rare instances of cryptorchidism in seals are interesting curiosities.

Benign Prostatic Hyperplasia in a 13-Year-Old Boy

Benign prostatic hyperplasia (BPH) is most common in men 40 years and above. It rarely occurs in childhood. As a result of the scarcity of cases, the pathogenesis is not clear, and treatment of BPH in this age group is challenging. This report focuses on a 13-year-old patient diagnosed with a histologically confirmed BPH, having presented with a 2-year history of recurrent hematuria and acute urinary retention. Magnetic resonance imaging (MRI) revealed a 287 g prostatic mass, with no signs of malignancy nor metastasis detected. A decision for open suprapubic prostatectomy was made. Postoperative follow-up at 1 year was uneventful. The possible causes of juvenile BPH have been postulated as gonadotropin supplementation for cryptorchidism and human chorionic gonadotropin-containing agent use by the mother during pregnancy. Our case had a history of the right inguinal undescended testis with scrotal orchidopexy done at 11 years of age. However, the patient had no history of human chorionic gonadotropin use, endocrinologic abnormality, or other possible contributing factors. His antenatal history was normal, with no use of human chorionic gonadotropin by the mother. Due to the very few reported cases, there is insufficient data to help understand the pathogenesis of childhood BPH.

The effect of scrotal versus inguinal orchiopexy on the testicular function of children with clinically palpable, inguinal undescended testis: a randomized controlled trial.

To compare the impact of the scrotal vs inguinal orchidopexy approach on the testicular function of infants with cryptorchidism, a randomized controlled trial was conducted involving boys who were 6-12 months old at surgery and were diagnosed with clinically palpable, inguinal undescended testis. Between June 2021 and December 2021, these boys at Fujian Maternity and Child Health Hospital (Fuzhou, China) and Fujian Children's Hospital (Fuzhou, China) were enrolled. Block randomization with a 1:1 allocation ratio was employed. The primary outcome was testicular function assessed by testicular volume, serum testosterone, anti-Müllerian hormone (AMH), and inhibin B (InhB) levels. Secondary outcomes included operative time, amount of intraoperative bleeding, and postoperative complications. Among 577 screened patients, 100 (17.3%) were considered eligible and enrolled in the study. Of the 100 children who completed the 1-year follow-up, 50 underwent scrotal orchidopexy and 50 underwent inguinal orchidopexy. The testicular volume, serum testosterone, AMH, and InhB levels in both groups increased markedly after surgery (all P < 0.05), but there were no apparent differences between groups at 6 months and 12 months after operation (all P > 0.05). No differences between the scrotal and inguinal groups were noted regarding the operative time ( P = 0.987) and amount of intraoperative bleeding ( P = 0.746). The overall complication rate (2.0%) of the scrotal group was slightly lower than that of the inguinal group (8.0%), although this difference was not statistically significant ( P > 0.05). Both scrotal and inguinal orchiopexy exerted protective effects on testicular function in children with cryptorchidism, with similar operative status and postoperative complications. Scrotal orchiopexy is an effective alternative to inguinal orchiopexy in children with cryptorchidism.

Diffusion‐weighted imaging and conventional magnetic resonance imaging for detection of non-palpable undescended testis

BackgroundMRI is noninvasive imaging tool and does not imply ionizing radiation and applies multiplanes images, but it is sometimes less efficient in locating intraabdominal functioning testicles and it fails to locate most of the atrophied testicles. Our aim in this study was to assess the value of the combined conventional MR imaging and DWI in the detection of non-palpable undescended testes in pediatric patients and correlate the results with the laparoscopic finding.ResultsThis prospective study was carried out from January 2020 to February 2022 on 60 pediatric patients with 68 non-palpable undescended testes referred from Urology department to the radiodiagnosis and medical imaging department at our institute for MR imaging evaluation of clinically diagnosed non-palpable undescended testis, and their age ranged from 6 months to 17 years with mean age of 4.24 ± 4.67 years. The conventional MRI sensitivity was 85.71%, specificity was 100%, NPV was 60%, and PPV was 100% with accuracy of 88.23%. The combined DWI and MRI sensitivity was 92.86%, specificity was 100%, NPV was 75%, and PPV was 100% with accuracy of 94.12%. DWI was able to detect all viable abdominal testes, while only detecting 26 (out of 28) inguinal testes. Combined assessment was able to detect all viable abdominal and inguinal testes.ConclusionsCombined DWI with a high b value and conventional MRI including T1WI, T2WI and fat-suppression T2WI showed considerable diagnostic performance compared to conventional MRI alone improving the preoperative sensitivity and accuracy of detection of non-palpable undescended testes.

Anatomical Laparoscopic Orchiopexy and Hybrid Transscrotal Orchiopexy for High Inguinal Undescended Testis: A Novel and Interfascial Technique.

Background: In traditional laparoscopic orchiopexy for inguinal undescended testis (UDT) surgery, the testicles are pulled back into the abdominal cavity by grasping and cephalad retracting the testicle and the cord. If this fails, a subsequent open inguinal incision is made to complete orchiopexy. To improve the orchiolysis and avoid extra open inguinal incision, we describe our early experience with and illustrate the surgical procedure of a novel anatomical laparoscopic orchiopexy (ALO) and hybrid transscrotal orchiopexy as required in high palpable UDT. Methods: From March 2018 to April 2020, ALO was performed in 140 consecutive patients (158 testes) with high inguinal UDT. After blunt and bloodless dissection of the inter-tunica vaginalis-cremasteric fascia plane, tunica vaginalis enveloping the testis was brought into the abdominal cavity as a whole. When the tunica vaginalis was unable to be brought into the abdominal cavity, given that the orchiolysis had already been partially carried out, the testis could be brought out of the external ring and descended when converting to transscrotal surgery. Results: The mean age in this study was 1.88 years (standard deviation ±1.95). The position of the testis assessed at surgery was peeping (58, 36.7%) and canalicular (100, 63.3%). In 128 testes (81.1%), ALO brought the UDT into the abdominal cavity; the remaining 30 testes (18.9%) required a hybrid transscrotal technique. All testes were descended without conversion to open inguinal procedure. The mean operative time was 43.9 ± 9.2 minutes. All patients had follow-up within a median of 17.8 months, with satisfactory results in relation to viability and location of the testis. Conclusions: ALO was shown to be not only safe, feasible, and effective for high inguinal UDT but also facilitated subsequent hybrid transscrotal orchiopexy; when the testis failed to be pulled into the abdominal cavity, the conversion to open inguinal orchiopexy could be obviated.

Case Report of a Pelvic Kidney with Ureteral Obstruction from Inguinal Hernia Entrapment and Concurrent Cryptorchid Testis

Case Report of a Pelvic Kidney with Ureteral Obstruction from Inguinal Hernia Entrapment and Concurrent Cryptorchid Testis

Abstract 82: Rare case of 46XY OVO testicular DSD

A 5-month-old term baby was referred for ambiguous genitalia. Examination showed a right descended gonad, and an empty scrotum and an inguinal swelling on the left, no phallus and single external urogenital opening in the perinium with an EMS score of 2.5. Possibilities considered included ovo-testicular DSD, PAIS and testosterone biosynthetic defects. Beta HCG Stimulation test ruled out synthetic defects and with good testosterone response. USG abdomen/scrotum showed left inguinal undescended testes. Post Acton prolongatum stimulated cortisol was 43 mcg/dL and the Karyotyping was 46 XY. Diagnostic laparoscopy showed a left sided ovotestes with fallopian tube-like structure attached; and biopsy of gonad confirmed both ovarian and testicular tissue. Hence diagnosis of 46 XY Ovo testicular DSD was made; one which accounts for 3-10% of total DSD. We report this instance where absence of phallic structure is a rare presentation among cases of 46XY Ovo testicular DSD.

Proportion of Testicular Absence and Position of Testis in Unilateral Nonpalpable Undescended Testis in a Tertiary Teaching Hospital in South India

Introduction: Undescended testis is a common surgical problem in children which needs to be treated by one and a half year of age. When testis is non palpable, it could be either absent, and when present intra-abdominal or inguinal. Methodology: A hospital based retrospective study was conducted in department of paediatric surgery, Thiruvananthapuram. Study population consisted of children treated with nonpalpable undescended testis from January 2016 to June 2021. Results: Mean age of intervention was 43.7 months (range 7 to 153 months). Incidence of absent testis was 30.97%. in 156 children who had ipsilateral undescended testis, 92 had intra-abdominal testis and 43 had inguinal testis. Presence of nubbin of testis in ipsilateral scrotum and contralateral testicular hypertrophy were suggestive of absent ipsilateral testis (p &lt;0.001). Testis is absent in 11.3% only when ipsilateral hemi scrotum is under developed. Conclusion: Proportion of absent testis is 30.97% in children with unilateral undescended testis. Presence of nubbin of testis in ipsilateral scrotum and contralateral testicular hypertrophy are predictive of ipsilateral testicular absence. Keywords: Undescended testis, atrophic testis, Contralateral hypertrophy.

An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma

Polyorchidism is a rare congenital disorder defined as the presence of more than two testicles for which the underlying etiology is unknown. This report examines a novel case, correlates findings to the literature, and discusses potential mechanisms of dysgenesis. This study was conducted on a 96-year-old male cadaver. Meticulous skilled dissection was done with careful attention to the pelvis, the inguinal region, the scrotum and testes. Measurements of the scrotal testes (STs), supernumerary testes (SNTs), scrotal epididymides (SEs), supernumerary epididymides (SNEs), ductus deferens (DD) and supernumerary ductus deferens (SDD) were taken, and testicular volume was calculated. Sagittal sectioning of STs, SNTs, SEs and SNEs was performed and, using standard histologic protocol, tissues were processed, stained with H&amp;E, and examined. Histological findings supported the anatomical suspicion of high, bilateral inguinal polyorchdism, or tetraorchdism, in this patient. STs and SNTs have normal, gross morphological features. The left SNT was supplied by the testicular artery, and the right SNT by the inferior epigastric artery. Both SNTs and SNEs were infiltrated with adipose tissue, whereas the scrotal homologues were histologically normal. Testicular volumes were 26.5 cm3 and 23.7 cm3, and 12.3 cm3 and 0.55 cm3, for the left and right STs and SNTs, respectively. The left and right SEs measured 7.2 cm and 7.0 cm; the left and right SNEs measured 4.7 cm and 1.7 cm, respectively. The left DD measured 40.2 cm from the scrotum. The SDD from the left SNT measured 5.9 cm and joined the main ductus 16 cm proximal to its origin. The right main DD measured 39.2 cm, and the SDD from the right SNT was 3.2 cm and joined the main DD 17.4 cm proximal to its origin. The current work suggests a novel classification for polyorchidism of Type 3, Subgroup B, or SNT attached to the draining epididymis and vas deferens without reproductive potential and SNT located outside the scrotal sac. Clinicians must correlate anatomical and histological findings in suspected polyorchids to avoid misdiagnosis of SNTs as benign lipomas.

Variations in the Initial Presentation of a Rare Congenital Adrenal Hyperplasia: Steroidogenic Acute Regulatory Deficiency

Background: Steroidogenic Acute Regulatory (StAR) deficiency is a rare form of congenital adrenal hyperplasia characterized by dysregulated cholesterol transport mediated by StAR enzyme across mitochondrial membranes. Adrenal dysfunction is due to the two-hit hypothesis: 1) defective StAR protein and 2) cholesterol accumulation in the adrenals and gonads. With variable cellular damage, adrenal crisis can occur early or late. Clinical cases: We present two cases of StAR deficiency with contrasting presentations. Case 1: A 9-day old ex full term female from a nonconsanguineous union presented to a rural hospital with hypothermia, lethargy, and poor feeding. She had hypoglycemia 41 mg/dL (60–105), hyponatremia 120 mEq/L (135–145), hyperkalemia 7.7 mEq/L (3.5–5.5) and cortisol < 0.4 ug/dL (4.5–23). Baby was started on hydrocortisone (HCT) 100 mg/m2 and one-time fludrocortisone (FCT). She decompensated requiring chest compressions, intubation and pressors. She was transferred to our institution. Newborn screen was normal; she had typical female external genitalia. US demonstrated a uterus; ovaries and adrenals were not identified. Upon extubation and clinical improvement, her HCT was weaned to physiologic doses. She became hyponatremic requiring FCT and salt supplements. Post-HCT wean, ACTH level was 304 pg/mL (7–63) with aldosterone < 4.0 ng/dL (6.5–86). Karyotype was 46,XX. Genetic analysis revealed a novel heterozygous likely pathogenic variant in the STAR gene, (STAR c.65-12_68del variant) without defect in the other STAR gene. Case 2: A 9-month-old ex full-term female of Iraqi descent from a nonconsanguineous union presented with fatigue, poor oral intake and weight loss from 50%-ile to 3%-ile. She had hyponatremia 122 mEq/L, hyperkalemia 8.0 mEq/L, but was normoglycemic. She was normotensive; EKG was normal. Parents noted progressive hyperpigmentation including her gums, palmar and plantar creases. She had typical external female genitalia with a hypoplastic clitoris (2 mm x 2 mm). ACTH stimulation test showed low cortisol (0.5 ug/dL) at 60 minutes. She was treated with HCT 100 mg/m2 for 5 days, then tapered to maintenance dosing, with FCT and salt supplements. Her ACTH level returned > 5000 pg/ml. Aldosterone, 17-OH-Progesterone, 17-OH-Pregnenolone, 11-Deoxycortisol and androstenedione were undetectable. Pelvic US did not identify uterus or ovaries. Pelvic MRI identified bilateral inguinal testes with enlarged adrenal glands. Karyotype was 46, XY. We suspected StAR deficiency with sex-reversal. Genetic analysis revealed a known homozygous mutation in STAR (c.545G>A). Conclusion: StAR deficiency is clinically indistinguishable from P450scc deficiency and genetic testing is needed. Both entities can present with early or delayed adrenal crisis. While classic for StAR deficiency, adrenal enlargement is inconsistent. Karyotype is vital to identify sex reversal.

Cryptorchid testicular torsion: a case report

Torsion of undescended testis is an uncommon surgical emergency rarely documented. We report a case of a 17 years old patient with an acute inguinal pain with an empty hemiscrotum related to torsion of an inguinal undescended testis. We discuss the clinical presentation, paraclinical investigation, and the outcome after surgery. Our objective is to highlight the importance of a meticulous clinical examination in front of inguinal pain.

A Retrospective Study of Cryptorchidectomy in Horses: Diagnosis, Treatment, Outcome and Complications in 70 Cases.

Simple SummaryCryptorchidism is the failure of one or both testes to descend into the scrotum and is considered to be one of the most common developmental disorders in horses. The aim of the study was to review medical records of horses referred for uni- or bilateral cryptorchidism. It was observed that the Western Riding horse breeds were the most affected, and that left abdominal and right inguinal retentions were the most frequent. Transabdominal ultrasound was the most reliable diagnostic tool to localize the retained testis. Standing laparoscopic and open inguinal cryptorchidectomy were elected as the surgical treatment of choice, in case of abdominal retention and inguinal retention respectively. For incomplete abdominal retention, laparoscopy was the preferred treatment, even though an open inguinal approach was a viable option for the concurrent removal of the descended testis.The aim of the study was to investigate the breed predisposition and the diagnostic and surgical management of horses referred for cryptorchidism. The breed, localization of retained testis, diagnosis, type of surgical treatment and complications were analyzed. Seventy horses were included in the study; the Western Riding horse breeds were the most affected (Quarter Horse 34/70, 48.5%; Appaloosa 9/70, 12.8%). In unilateral cryptorchids (65/70, 92.8%) the most common location for a retained testis was the left abdomen (28/65, 43%), while in bilateral cryptorchids (5/70, 7.1%), bilateral abdominal retention was the most frequent (3/5, 6%). Information about testis localization was achieved through transabdominal ultrasound (30/49 cases, 61.2%), through per rectum palpation (21/49 cases, 42.9%) and through inguinal palpation (14/49 cases, 28.9%). Cryptorchidectomy was achieved with standing laparoscopy (44/70 cases, 62.8%), or with open inguinal orchiectomy in general anesthesia (26/70 cases, 37.2%). Complications during laparoscopy were spleen puncture (1/44, 2.2%), a self-limiting bleeding from the spermatic cord (10/44 cases, 22.7%), hyperthermia (3/44 cases, 6.8%), and emphysema (15/44, 34%). During inguinal open cryptorchidectomy difficulties with identifying the inguinal testis during surgery (8/26 cases, 30.8%) and a moderate and self-limiting swelling of the inguinal region after surgery (17/26, 65.4%) were observed. For orchiectomy, a standing laparoscopy was confirmed as the preferred procedure for an abdominally retained testis with almost no complications.

Ectopic testis: an experience of a tertiary-level urology center at Upper Egypt

BackgroundTesticular ectopia is defined as a testis which is located away from the normal pathway of testicular descent and outside its ipsilateral hemiscrotum. Controversies have been raised about considering the abdominal and inguinal ectopic testes as undescended ones. Our purpose was to review our center’s experience with the diagnosis and management of testicular ectopia focusing on the inguinal ectopic testis. Retrospectively, we studied the clinical and surgical characteristics of a case series of testicular ectopia which was managed in our center during July 2001–June 2016.ResultsOut of 1132 patients with undescended testes, 44 cases (3.9%) had testicular ectopia. Twenty-three cases (mean age = 5.15 ± 5.79 years) fulfilled the criteria of inguinal ectopic testis. Clinically, testes were relatively mobile and superficial. Surgically, they were located in the superficial inguinal pouch, had relatively long spermatic cords, and commonly had average rather than small sizes. The other ectopic 21 cases (mean age = 10.56 ± 6.92 years) were perineal, anterior abdominal wall, femoral, prepubic, and transverse testes in 7 (33.3%), 4 (19%), 4 (19%), 3 (14.3%), and 3 (14.3%) cases, respectively. Congenital inguinal hernia was the commonest associated anomaly (22.7%). All cases were treated surgically with only 1 case of testicular atrophy (2.3%).ConclusionsTesticular ectopia is rare with relatively delayed presentations. Different anatomical sites have been reported including the superficial inguinal pouch and anterior abdominal wall with variable complexities and controversies. The inguinal ectopic testis is the most controversial, but it might be characterized from other entities based on certain clinical and surgical criteria.

A Rare Cause of Acute Abdomen: Testicular Torsion in an Inguinal Undescended Testis

Testicular torsion is well-known urologic emergency. It warrants urgent diagnosis and surgical intervention for successful outcomes. The incidence of undescended testis in new born is 2%-8% and reduces to <1% by 1 year of age. In majority of cases, it is located in inguinal canal. Though undescended testis is a known risk factor for testicular torsion, there are limited cases reports in the literature. Testicular torsion in undescended testis is difficult to diagnose due to vague symptoms and absence of testicular signs. We report a unique case of testicular torsion in an inguinal undescended testis in a 14-year young male.

Novel compound heterozygous LoF mutations in SRD5A2 may result in disorders of sex development

Objective: To investigate the novel genetic cause associated with hypospadias and the strategy for preventing offspring genetic defects in these patients. Methods: In March 2019, a patient with gonadal dysplasia (hypospadias associated with cryptorchidism) was referred to Shanghai General Hospital. His secondary sex characters, level of sex hormones and the development of male reproductive system was assessed through physical examination, sex hormone examination, male reproductive system B-ultrasound and computed tomography (CT). Whole-exome sequencing (WES) was preformed to investigate the pathogenic genetic variations associated with hypospadias and cryptorchidism. Also, Sanger sequencing was conducted to verify the WES results in the pedigree. Semen analysis was used to assess the fertility of the proband and the SRD5A2 gene analysis of his spouse was performed to assess the risk of genetic defects in the offspring. Results: The patient suffered from gonadal dysplasia (hypospadias associated with cryptorchidism). Physical examination showed an inverted triangular distribution of pubic hair, small penis and the volume of the testis was 8 ml. Sex hormone examination revealed the level of FSH, LH, Pituitary prolactin (PRL), estrogen (E(2)), testosterone (T), and sex hormone-binding globulin (SHBG) was 25.81 U/L, 10.84 U/L, 21.09 μg/L, 153 pmol/L, 16.95 nmol/L, and 36.15 nmol/L respectively. B-ultrasound and computed tomography (CT) showed left inguinal testis. Also, semen analysis illustrated that the volume was 0.05 ml and sperm concentration<2×10(6)/ml, suggesting oligospermia in this case. WES sequencing and Sanger sequencing showed compound heterozygous LoF mutations in SRD5A2 [NM_000348.3:C.679C>T(p.Arg227Ter) and NM_000348.3:C.16C>T(p.Gln6Ter)] in this patient. And there were no pathogenic genetic variations of SRD5A2 in the spouse. Conclusion: Novel compound heterozygous LoF mutations in SRD5A2[NM_000348.3:C.679C>T(p.Arg227Ter) and NM_000348.3:C.16C>T(p.Gln6Ter)] may be the primary cause of disorders of sex development.

Serum concentrations and testicular expressions of insulin-like peptide 3 and Anti-Müllerian hormone in normal and cryptorchid male horses

Insulin-like peptide 3 (INSL3) is an important hormone for testicular descent during embryonic development and a factor for assessing functional status of Leydig cells of testes, but there is limited number of equine studies. Anti-Müllerian hormone (AMH) is a useful diagnostic marker for cryptorchidism in horses. This study aimed to compare serum concentrations and testicular expression intensity of INSL3 and AMH in intact and cryptorchid male horses. Serum INSL3 concentrations in intact (n = 9; mean ± SEM, 19.9 ± 5.9 ng/mL) and noncastrated unilateral cryptorchid (UC) male horses (n = 16; mean ± SEM, 16.8 ± 4.1 ng/mL) were higher compared with hemicastrated unilateral cryptorchid (HCUC) male horses (n = 9; mean ± SEM, 3.8 ± 0.7 ng/mL) (P < 0.05). And serum INSL3 in bilateral cryptorchid (BC) male horses (n = 4; 1.9 ± 0.4; mean ± SEM, ng/mL) were lower compared with intact male horses (P < 0.05). Serum AMH concentrations in BC male horses (n = 3; mean ± SEM, 30.6 ± 4.8 ng/mL) were higher compared with intact male horses (n = 5; mean ± SEM, 12.2 ± 3.9 ng/mL) (P < 0.05). Immunostaining of scrotal and cryptorchid testis showed that Sertoli cells were positive for AMH, and Leydig cells were positive for INSL3. Staining intensity of AMH was higher in cryptorchid testis than in scrotal testis (P < 0.05). Furthermore, AMH expression intensity was higher in abdominal testis than in inguinal testis (P < 0.05). Immunostaining intensity of INSL3 in the testis was positively correlated with serum INSL3 (r, 0.7; P < 0.01), seminiferous tubule area (r, 0.727; P < 0.01), and Johnsen score for spermatogenesis (r, 0.604; P < 0.05), whereas immunostaining intensity of AMH in the testis was negatively correlated with seminiferous tubule area (r, −0.814; P < 0.01) and Johnsen score for spermatogenesis (r, −0.807; P < 0.01). Our findings suggested that AMH is a good biomarker for diagnosing cryptorchidism in male horses, in addition to INSL3 values to assess the testis of intact and cryptorchid male horses.