[A case of complete androgen insensitivity syndrome with special family history and its genetic analysis].

OBJECTIVE: To report a case of complete androgen insensitivity syndrome with a special family history and its genetic analysis. METHODS: We studied the medical history, diagnosis and treatment of a case of complete androgen insensitivity syndrome, collected blood samples from the patient and his mother for whole exome sequencing, and analyzed the genetic etiology. RESULTS: The patient presented with "primary amenorrhea" and diagnosed with male pseudohermaphroditism, with the karyotype as 46, XY. Surgery confirmed undescended testes in the abdominal cavity. The androgen level was higher than normal. Whole exome sequencing of the patient and his mother found c.2678C>T (p.P893L) but no other abnormalities, which was considered as a suspected pathogenic mutation of complete androgen insensitivity syndrome. The patient had a "sister" with a similar medical history. CONCLUSION: c.2678C>T (p.P893L) is a suspected pathogenic mutation of complete androgen insensitivity syndrome, which usually cannot be detected until puberty, making it easy to delay the diagnosis.

[Clinical characteristics and treatment strategies of prostatic mucinous adenocarcinoma: A report of 10 cases and literature review].

OBJECTIVE: To investigate the clinical characteristics and treatment strategies of prostatic mucinous adenocarcinoma (PMAC). METHODS: We retrospectively analyzed the clinical data on 10 cases of PMAC treated in the First Affiliated Hospital of Nanjing Medical University from January 2014 to June 2018. The patients were aged 51－79 (65 ± 14) years, with a medium PSA level of 89 (14.63－128.05) µg/L and Gleason scores of 3 + 3 in 1 case, 3 + 4 in 2, 4 + 3 in 1 and 8 in 6 cases preoperatively, 1 treated by robot-assisted radical prostatectomy and the other 9 by laparoscopic radical prostatectomy. We conducted pelvic cavity lymph node dissection for all the patients and analyzed their prognosis and survival. RESULTS: Operations were successfully completed in all the cases. Pathological examination revealed 2 cases of mucinous adenocarcinoma with signet ring cell carcinoma in the 10 PMAC patients, 2 at stage ≤T2b, 5 at stage ≥T2c, 3 positive at pelvic lymph node dissection and 5 positive at the incision margin. The patients were followed up for 6－48 (median 26) months. Four of the patients were found with biochemical recurrence within 2 years after operation and treated by androgen-deprivation therapy, radiotherapy and chemotherapy, which reduced the PSA level to <1.0 µg/ml in all the 4 cases. CONCLUSIONS: PMAC has a good prognosis. Radical surgery is recommended for moderate and low-risk PMAC and the patients with postoperative biochemical recurrence can benefit from comprehensive treatment of total androgen blockade.

[Effects of regulation measure on soil and microbial biomass of moderately degraded alpine meadow in Qilian Mountain, China]. / 调控措施对祁连山中度退化高寒草甸土壤的影响.

We examined the effects of different regulation measures (spring rest grazing, spring rest grazing-cutting turf, spring rest grazing-cutting turf-fertilization, spring rest grazing-cutting turf-sowing, spring rest grazing-cutting turf-fertilization-sowing) on vegetation, soil physical and chemical properties, and soil microbial biomass in mode-rately degraded alpine meadow in Qilian Mountain. The results showed that all the regulation measures significantly increased plant coverage and aboveground and underground biomass of degraded alpine meadows. Plant species richness increased significantly under the two measures of spring rest grazing-cutting turf-fertilization and spring rest grazing-cutting turf-fertilization-sowing. The dominant species of spring rest grazing-cutting turf-sowing and spring rest grazing-cutting turf-fertilization-sowing was Poa pratensis cv. Qinghai. Soil pH and bulk density in moderately degraded alpine meadow (control) were significantly higher than those of all regulation measures. Soil water content, soil organic carbon, total nitrogen and total potassium, carbon-nitrogen ratio and nitrogen-phosphorus ratio of spring rest grazing-cutting turf-fertilization-sowing measures were the highest, which were 21.3%, 22.30 g·kg-1, 2.77 g·kg-1, 19.93 g·kg-1, 8.3 and 3.5, respectively. Soil microbial biomass nitrogen and phosphorus (104.98 and 40.74 mg·kg-1) of degraded meadows under spring rest grazing-cutting turf-fertilization-sowing measures were significantly higher than those of other measures, while soil microbial biomass carbon (240.72 mg·kg-1) of degraded meadows under spring rest grazing-cutting turf-fertilization measures was significantly higher than that of other measures. The results of radar map showed that the regulation measures affected the characteristics of degra-ded meadow vegetation (aboveground and underground biomass), soil physical and chemical properties (water content, organic carbon, total nitrogen, total phosphorus, and total potassium) and soil microbial biomass (carbon, nitrogen and phosphorus). Spring rest grazing-cutting turf-fertilization-sowing measures had the best performance in restoraing degraded meadows in the study area.

Predictive factors for successful sperm retrieval by microdissection testicular sperm extraction in men with nonobstructive azoospermia and a history of cryptorchidism.

This study aims to explore the factors influencing the success rate of the microdissection testicular sperm extraction (Micro-TESE) in patients with nonobstructive azoospermia (NOA) and cryptorchidism. Clinical data of 162 patients with cryptorchidism who underwent Micro-TESE due to infertility from December 2015 to May 2020 in the First Affiliated Hospital of Nanjing Medical University were analyzed retrospectively. In the univariate analysis, significant differences in the age of patient at the time of orchidopexy (median [interquartile range, IQR]: 7.0 [4.0-11.0] years vs 11.5 [9.0-14.5] years, P < 0.001), interval between orchidopexy and Micro-TESE (mean ± standard deviation: 17.5 ± 5.0 years vs 14.4 ± 4.4 years, P < 0.001), severity of cryptorchidism (unilateral [62.8%] vs bilateral [31.6%], P < 0.001; location of cryptorchidism, intra-abdominal [27.3%] vs inguinal [44.8%] vs suprascrotal [66.7%], P < 0.001), volume of the dominant testis (median [IQR]: 17.00 [15.00-19.00] ml vs 14.50 [11.75-16.25] ml, P < 0.001), and levels of follicle-stimulating hormone (FSH; P = 0.004) and testosterone (P = 0.006) were observed between the successful and failed sperm extraction groups. After conducting the multivariate analysis, four of these factors, including unilateral/bilateral cryptorchidism (P < 0.001), location of cryptorchidism (P = 0.032), age of orchidopexy (P < 0.001), and dominant testicular volume, were adopted in the clinical prediction model to evaluate preoperatively the success rate of Micro-TESE for patients with NOA and cryptorchidism. The likelihood of successful sperm retrieval by Micro-TESE in men with NOA and cryptorchidism increased in patients with mild forms of cryptorchidism.

[Advances in the study of Semenogelin I from human seminal vesicles].

Sperm acquires capacity of motility and fertility during the process of semen coagulation and liquefaction. The main coagulative protein is Semenogelin I (Sg I), specifically produced by seminal vesicles, and then decomposed by prostate specific antigens (PSA) in sperm liquefaction into a series of small fragments. These fragments, with a variety of physiological functions, are very important for the regulation of sperm capacity acquisition and progressive movement.

[Progress in the studies of human epididymal secretive proteins].

There are over 200 secretive proteins in the epididymis. Spermatozoa are generally considered to become mature and full-functional after interacting with secretive proteins in the epididymis. This review is aimed at summarizing some aspects of the biochemical, molecular and functional characterization of some new proteins recently detected in human epididymis, and is expected to contribute to further researches on the mechanism of epididymal reproduction and contraception.