GONADAL FUNCTIONS IN SEVEN PATIENTS WITH PRADER-LABHART-WILLI SYNDROME

Abstract

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.