The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A (p.G183R) in the LHCGR gene. The patient was ultimately diagnosed with type II Leydig cell hypoplasia. Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes, characterized by a lack of parallel function between Leydig cells and Sertoli cells, and significant individual variability in spermatogenesis and gender assignment. This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.
Female ; Humans ; Infant ; Disorder of Sex Development, 46,XY/genetics* ; Leydig Cells/pathology* ; Mutation ; Receptors, LH/genetics* ; Testis/abnormalities*

Male infertility (MI) is a complex multifactorial disease, and idiopathic infertility accounts for 30% of cases of MI. At present, the evidence for the effectiveness of empirical drugs is limited, and in vitro fertilization is costly and may increase the risk of birth defects and childhood cancers. Therefore, affected individuals may feel obliged to pursue natural remedies. Traditional Chinese medicine (TCM) may represent a useful option for infertile men. It has been demonstrated that TCM can regulate the hypothalamic-pituitary-testicular axis and boost the function of Sertoli cells and Leydig cells. TCM can also alleviate inflammation, prevent oxidative stress, reduce the DNA fragmentation index, and modulate the proliferation and apoptosis of germ cells. Furthermore, TCM can supply trace elements and vitamins, ameliorate the microcirculation of the testis, decrease the levels of serum anti-sperm antibody, and modify epigenetic markers. However, the evidence in favor of TCM is not compelling, which has hindered the development of TCM. This review attempts to elucidate the underlying therapeutic mechanisms of TCM. We also explore the advantages of TCM, differences between TCM and Western medicine, and problems in existing studies. Subsequently, we propose solutions to these problems and present perspectives for the future development of TCM.
Apoptosis ; Congenital Abnormalities ; DNA Fragmentation ; Epigenomics ; Fertilization in Vitro ; Germ Cells ; Humans ; Infertility ; Infertility, Male ; Inflammation ; Leydig Cells ; Male ; Male ; Medicine, Chinese Traditional ; Microcirculation ; Oxidative Stress ; Sertoli Cells ; Testis ; Trace Elements ; Vitamins

Adult ; Azoospermia/etiology* ; Choristoma/surgery* ; Humans ; Male ; Microdissection ; Sperm Retrieval ; Testicular Diseases/surgery* ; Testis/surgery* ; Vas Deferens/abnormalities*

Objective: To determine the feasibility and short-term effect of single scrotal-incision orchidopexy (SSIO) without ligation of the processus vaginalis (PV) in the treatment of palpable undescended testis (PUDT). METHODS: This retrospective study included 109 cases of PUDT (125 sides) and 15 cases of impalpable undescended testis (IUDT). The former underwent SSIO without PV ligation (group A, n = 53) or standard inguinal orchidopexy with PV ligation (group B, n = 56) while the latter received laparoscopic exploration (group C). We analyzed the success rate of SSIO in the management of PUDT, postoperative complications, and incidence rates of hernia and hydrocele, and compared the relevant parameters between groups A and B. RESULTS: The median age of the PUDT patients was 1.4 (0.6－11.0) years. Group A included 24 cases of left PUDT (2 with hydrocele), 20 cases of right PUDT (1 with hydrocele), and 9 cases of bilateral PUDT, the success rate of which was 95.1%. Group B consisted of 27 cases of left PUDT, 22 cases of right PUDT (3 with hernias), and 7 cases of bilateral PUDT. The rate of PV patency in the PUDT patients was 80.8% (101/125). Laparoscopic exploration of the 15 IUDT patients revealed 2 cases of congenital testis absence, 6 cases of testis dysplasia, all treated by surgical removal, 3 cases of staying around the inner ring, descended by inguinal orchidopexy, and the other 4 treated by laparoscopic surgery. The incisions healed well in all cases, with no testicular atrophy, inguinal hernia or hydrocele. CONCLUSIONS Single scrotal-incision orchidopexy without PV ligation is a safe and feasible procedure for the treatment of palpable undescended testis, which avoids the risk of inguinal hernia or hydrocele.
Child ; Child, Preschool ; Cryptorchidism ; surgery ; Feasibility Studies ; Gonadal Dysgenesis, 46,XY ; diagnosis ; Hernia, Inguinal ; Humans ; Infant ; Laparoscopy ; statistics & numerical data ; Ligation ; statistics & numerical data ; Male ; Orchiopexy ; adverse effects ; methods ; Postoperative Complications ; etiology ; Retrospective Studies ; Scrotum ; surgery ; Surgical Wound ; Testicular Diseases ; diagnosis ; Testicular Hydrocele ; Testis ; abnormalities

Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner's syndrome. The breast development of 27 patients (84.38%) was less than level 3. The armpit hair was sparse or absent in 28 patients (87.5%) and the pubic hair was sparse or absent in 26 patients (81.25%).Other findings include naive vulva (n=18,56.25%)) and enlarged clitoris (n=5,15.63%). The average level of follicle stimulating hormone was (78.56±35.62) mIU/ml,the luteinizing hormone level was (20.23±11.35) mIU/ml,the estradiol level was (9.94±8.21) pg/ml,and the testosterone level was (0.24±0.18) ng/ml. All patients received prophylactic gonadectomy. The histopathology results showed a variety of gonads,and gonadal malignancy were observed in 4 patients.Conclusions Patients with XO/XY gonadal dysgenesis manifest primary amenorrhea or short stature,poorly developed secondary sexual characteristics,and elevated gonadotropin level. The gonads have increased risk of gonadal malignancy.
Adolescent ; Adult ; Child ; Estradiol ; blood ; Female ; Follicle Stimulating Hormone ; blood ; Gonadal Dysgenesis, 46,XY ; physiopathology ; Humans ; Luteinizing Hormone ; blood ; Retrospective Studies ; Testis ; abnormalities ; physiopathology ; Testosterone ; blood ; Turner Syndrome ; physiopathology ; Young Adult

PURPOSE: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate the clinical, endocrinological, and molecular characteristics in Korean patients with KS and nIHH. METHODS: Twenty-six patients from 25 unrelated families were included. Their clinical, endocrinological, and radiological findings were analyzed retrospectively. Mutation analysis of the GNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR3, FGF8, FGFR1, and KAL1 genes was performed in all patients. CHD7 and SOX10 were analyzed in patients with CHARGE (Coloboma, Heart defects, choanae Atresia, Growth retardation, Genitourinary abnormality, Ear abnormality) features or deafness. RESULTS: Of the 26 patients, 16 had KS and 10 had nIHH. At diagnosis, mean chronologic age was 18.1 years in males and 18.0 years in females; height SDS were -0.67+/-1.35 in males, -1.12+/-1.86 in females; testis volume was 2.0+/-1.3 mL; and Tanner stage was 1.5. There were associated anomalies in some of the KS patients: hearing loss (n=6) and congenital heart disease (n=4). Absence or hypoplasia of the olfactory bulb/sulci was found in 84.62% of patients with KS. Molecular defects in KAL1, SOX10, and CHD7 were identified in 5 patients from 4 families (16.0%, 4/25 pedigrees). After sex hormone replacement therapy, there were improvement in sexual characteristics and the sexual function. CONCLUSION: This study described the clinical, endocrinological, and molecular genetic features in IGD patients in Korea. Although the mutation screening was performed in 10 genes that cause IGD, molecular defects were identified in relatively small proportions of the cohort.
Cohort Studies ; Deafness ; Diagnosis ; Ear ; Female ; Gonadotropin-Releasing Hormone ; Hearing Loss ; Heart ; Heart Defects, Congenital ; Hormone Replacement Therapy ; Humans ; Hypogonadism* ; Immunoglobulin D ; Kallmann Syndrome* ; Korea ; Male ; Mass Screening ; Molecular Biology ; Nasopharynx ; Olfaction Disorders ; Retrospective Studies ; Testis ; Urogenital Abnormalities

OBJECTIVETo improve the diagnosis and treatment of testicular teratoma in children by analysis of clinical data.

METHODSWe retrospectively analyzed the clinical data about 64 cases of testicular teratoma treated in the Children's Hospital of Chongqing Medical University from 1995 to 2014.

RESULTSSixty-one of the cases presented painless scrotal mass with a sense of bearing down and the other 3 cases were confirmed because of empty scrotum diagnosed as cryptorchidism. The level of serum alpha fetal protein ( AFP) was obviously increased in 46 cases but normal in the other 18 preoperatively. Ultrasonography manifested abnormal inhomogeneous echo zones with calcification or necrosis. X-ray examination presented patchy or curvilinear high-density shadows in 28 cases. Forty-one of the patients underwent testis-sparing surgery (TSS) , 20 received high inguinal orchiectomy, and 3 refused surgical treatment. Pathological examination revealed 3 mature germinal layers in the 49 cases of mature teratoma and immature germinal tissue, including the original neural tube, and 11 cases of immature teratoma. The mature cases were exempted from chemotherapy, while the immature cases received the combination of cisplatin, etoposide, and bleomycin (PEB). The patients were followed up for 2 years postoperatively, which revealed no recurrence or metastasis.

CONCLUSIONMost children with testicular teratoma presented painless scrotal mass with a sense of bearing down and with abnormal serum AFP in most cases. Ultrasonography and plain radiography of the scrotum contribute to the diagnosis of the tumor. TSS is the main treatment option and intraoperative frozen-section can help the surgeons decide on the surgical mode. Postoperative chemotherapy is necessitated for immature teratoma but not for mature cases.

Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Bleomycin ; administration & dosage ; Child ; Cisplatin ; administration & dosage ; Cryptorchidism ; diagnosis ; Etoposide ; administration & dosage ; Gonadal Dysgenesis, 46,XY ; diagnosis ; Humans ; Male ; Orchiectomy ; methods ; Retrospective Studies ; Scrotum ; Teratoma ; blood ; diagnosis ; pathology ; therapy ; Testicular Neoplasms ; blood ; diagnosis ; pathology ; therapy ; Testis ; abnormalities ; alpha-Fetoproteins ; analysis

The arrenotokous toxicity of triptolide was evaluated, and the rate of sperm abnormality, the changes of the lipid peroxide, the enzyme activity and the hormone in male rats were observed. With the negative and positive control group, the healthy rats were respectively given by gavage triptolide suspension at the dose of 0.025, 0.05, 0.1 mg x kg(-1) for 30 days. Then the rats were killed for the measurement of the indicators in testis and serum, as well as the study on the sperm abnormality. The results showed that the positive control group had significant difference, compared with the negative control group. The content of SOD, LDH, G-6-PD, Na+ -K+ -ATPase, Ca+ -Mg+ -ATPase decreased significantly in 0.05 mg x kg(-1) group, and reduced more obviously with exposure to the dose of 0.1 mg x kg(-1). The levels of GSH-Px and beta-G showed a significant decrease in the testis of rats only at the dose of 0.1 mg x kg(-1). Nevertheless, the MDA levels, the FSH levels and the LH levels showed no significant difference. The deformity rate of sperm increased significantly in 0.05 mg x kg(-1) group and 0.1 mg x kg(-1) group. The results indicated the triptolide had the effect of the lipid peroxidation to damage Spermatogenic cells, Sertolis cells and Leydig cells. At the same time, the triptolide interfered not only with the energy supply process of aerobic and anaerobic glycolysis,but also with the energy utilization in testis by affecting the activities of testis marker enzymes, and produced a damage chain of the male reproductive system
Animals ; Diterpenes ; toxicity ; Drugs, Chinese Herbal ; toxicity ; Epoxy Compounds ; toxicity ; Lipid Peroxidation ; drug effects ; Male ; Organ Size ; drug effects ; Phenanthrenes ; toxicity ; Rats ; Rats, Wistar ; Reproduction ; drug effects ; Spermatozoa ; abnormalities ; drug effects ; metabolism ; Testis ; drug effects ; growth & development ; metabolism ; Tripterygium ; chemistry ; toxicity

OBJECTIVEThis study was designed to evaluate the toxic effects of Atrazine (ATZ) on the reproductive system of male rats.

METHODSMale Sprague-Dawley rats were exposed to ATZ by gavage at dosages of 0, 38.5, 77, and 154 mg/kg bw/day for 30 d. The toxic effects of ATZ to rats were assessed through histopathologcal observation, spermatozoa quality evaluation, testicular marker enzyme indicators, antioxidant capacity and reproductive hormone levels.

RESULTSSignificant adverse effects on reproductive system were observed in rats exposed to ATZ at different dosages compared with 0 mg/kg group, including an irregular and disordered arrangement of the seminiferous epithelium in 154 mg/kg group; a decreased spermatozoa number and an increased spermatozoa abnormality rate in 77 and 154 mg/kg groups; decreased levels of acid phosphatase (ACP), alkaline phosphatase (AKP), lactic dehydrogenase (LDH), and succinate dehydrogenase (SDH) with the increasing of ATZ concentration; a decreased level of total antioxidant capacity (TAC) in a dose-dependent manner, and a decreased reduced glutathione (GSH) level and an increased malondialdehyde (MDA) content in 154 mg/kg group; and decreased serum levels of testosterone (T) and inhibin-B (INH-B) and an increased serum level of follicle stimulating hormone (FSH) in 77 and 154 mg/kg groups, and an increased serum level of luteinizing hormone (LH) in 154 mg/kg group.

CONCLUSIONThese results suggested that relatively high doses of ATZ could exert reproductive toxicity of male rats.

Animals ; Antioxidants ; metabolism ; Atrazine ; toxicity ; Body Weight ; drug effects ; Herbicides ; toxicity ; Hormones ; blood ; Male ; Organ Size ; drug effects ; Rats ; Rats, Sprague-Dawley ; Sperm Count ; Spermatozoa ; abnormalities ; drug effects ; Testis ; drug effects ; enzymology ; pathology ; Toxicity Tests, Chronic

Splenogonadal fusion is a rare developmental anomaly in which an abnormal connection between the splenic tissue and gonads or mesonephric derivatives is present. Less than 200 cases have been reported since it was first described in 1883. Preoperative misdiagnosis is common and may lead to unnecessary orchidectomy if testicular neoplasm is suspected. To avoid such outcomes, it is important to be aware of the features of splenogonadal fusion. We report the case of a five-month-old male infant with continuous-type, left-sided splenogonadal fusion, which was discovered during groin exploration for a scrotal mass. Although the lesion was first noted during an episode of nonspecific viral fever, such an association is uncommon. Preoperative ultrasonographic evaluation favoured a diagnosis of a large haemangioma. This is the first reported case of splenogonadal fusion from Sri Lanka.
Diagnosis, Differential ; Humans ; Infant ; Male ; Spleen ; abnormalities ; surgery ; Splenic Diseases ; diagnosis ; surgery ; Testicular Diseases ; diagnosis ; surgery ; Testis ; abnormalities ; surgery