男性不妊の診断と治療

金沢大学医薬保健研究域医学系出版者照会後に全文公

A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

金沢大学医薬保健研究域医学系Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17). To investigate whether defects in the SPATA17 gene are associated with azoospermia due to meiotic arrest, a mutational analysis was conducted, in which the SPATA17 coding regions of 18 Japanese patients with this condition were sequenced. A statistical analysis was carried out that included 18 patients with meiotic arrest, 20 patients with Sertoli-cell-only syndrome (SCOS) and 96 healthy control men. No mutations were found in SPATA17. However, three coding single nucleotide polymorphisms (cSNPs: SNP1-SNP3) were detected in the patients with meiotic arrest. No significant differences in the genotype or allele frequencies of SNP1 and SNP2 were found between patients with meiotic arrest and the others. However, the frequency of the SNP3 allele was significantly elevated in the meiotic arrest group (P < 0.05). This study suggests that SPATA17 may play a critical role in human spermatogenesis, especially in meiosis

Semen quality of 1559 young men from four cities in Japan: a cross-sectional population-based study

Objectives: To provide information of semen quality among normal young Japanese men and indicate the frequency of reduced semen quality. Design: Cross-sectional, coordinated studies of Japanese young men included from university areas. The men had to be 18-24 years, and both the man and his mother had to be born in Japan. Background information was obtained from questionnaires. Standardised and quality-controlled semen analyses were performed, reproductive hormones analysed centrally and results adjusted for confounding factors. Setting: Four study centres in Japan (Kawasaki, Osaka, Kanazawa and Nagasaki). Participants: 1559 men, median age 21.1 years, included during 1999-2003. Outcome measures: Semen volume, sperm concentration, total sperm count, sperm motility, sperm morphology and reproductive hormone levels. Results: Median sperm concentration was 59 (95% CI 52 to 68) million/ml, and 9% and 31.9% had less than 15 and 40 million/ml, respectively. Median percentage of morphologically normal spermatozoa was 9.6 (8.8 to 10.3)%. Small, but statistically significant, differences were detected for both semen and reproductive hormone variables between men from the four cities. Overall, the semen values were lower than those of a reference population of 792 fertile Japanese men. Conclusions: Assuming that the investigated men were representative for young Japanese men, a significant proportion of the population had suboptimal semen quality with reduced fertility potential, and as a group they had lower semen quality than fertile men. However, the definitive role-if any-of low semen quality for subfertility and low fertility rates remain to be investigated

片側腎欠損を伴う骨盤腎 : 偶然発見された1例

15歳女, 片側腎欠損を伴う骨盤腎を偶然発見し, 排泄性腎盂造影, CTおよび逆行性腎盂造影にて診断したWe report a case of solitary pelvic kidney. This uncommon condition was detected incidentally and diagnosed with intravenous pyelography (IVP), computed tomography (CT), and retrograde pyelography (RP)

顕微鏡下交叉性精管精管吻合術による妊娠成立の1例

26歳男性, 3年間の不妊にて来院.精液中に精子を認めず, 血中テストステロン, LH, FSHは正常範囲, 理学的所見では, 15歳時のムンプス精巣炎によると思われる左精巣の萎縮を認めるほか異常なし.精管造影で, 左側は正常であるが右側精管は鼠径部で完全閉塞, 精巣生検では右側精巣の精子形成能はほぼ正常であったが左側は廃絶.この特異な精路通過障害の整復を目的として, 右側正常精巣の閉塞前の中枢側精管と対側正常精管末梢側とを, 陰嚢隔壁を通し, 顕微鏡下にtransvaso-vasostomyを施行した.術後1ヵ月目に精子の出現をみ, 6ヵ月目に妊娠成立, 満期安産にて正常女児を出産した.このような特異な精路通過障害の整復には, 可能な限り生来の精路を用いる手術法がとられるべきで, その際には顕微鏡下での手術が成績向上のために必要と考えられる.We report a case of an infertile man treated successfully with microsurgical transvaso-vasostomy. The patient had a normal testicle with an obstructed vas deferens on one side and an atrophied testicle with a normal vas on the other side. We anastomosed the proximal vas from the functioning testicle to the opposite intact vas through the median scrotal raphe. As a result, the patient fathered a child 16 months after operation

Prader-Labhart-Willi症候群を有する7例の性腺機能

両側停留睾丸を合併した7 1/6～15 1/12のPrader-Labhart-Willi症候群(PLWS)7例に対してLH-RH, HCG両負荷試験および睾丸生検術を施行した。6例には第二次性徴の発来は無く, 血中 LH, FSH, testosteroneは低値で, さらに LH-RH, HCG に対して有意の反応はみとめられなかった。以上6例の睾丸組織像において, 精祖細胞の減少を全例に, また間質の線維化を3例にみとめた。一方, 他の1例には第二次性徴の発来をみており, 血中 LH, FSH, testosterone は他のものより高値を呈し, LH-RH, HCGに対しても有意の反応をみ, 加えて精細管中には精母細胞, 精子細胞をみとめた。以上の所見からPLWSの中には, 異った視床下部下垂体性腺系障害を有する症例が存在することが想定された。LH-RH test, HCG test and testicular biopsy were performed in 7 boys with Prader-Labhart-Willi syndrome (PLWS) in whom bilateral cryptorchidism was observed. The age of patients ranged 7-1/6 to 15-1/12 years. Six out of 7 patients had no pubertal signs and the basal levels of serum LH, FSH and testosterone were low. Furthermore, no significant responses of serum LH and FSH to LH-RH stimulation and of testosterone to HCG were observed. Histological examination of the testes in these six patients revealed the seminiferous tubules containing reduced numbers of immature germ cells in 6 cases and interstitial fibrosis in 3 cases. However, the basal values of LH, FSH and testosterone in lout of seven cases with pubertal signs were higher than those in remaining 6 cases and significant hormonal responses to LH-RH stimulations were demonstrated. In the seminiferous tubule of the last patient, spermatocytes and spermatids were found. These findings suggest that different patterns of disturbance of hypothalamo-pituitary-gonadal system are present in male patients with PLWS