[Pasqualini's syndrome].
BACKGROUND
Pasqualini's syndrome is an isolated, incretory functional disorder of the testes with a secondary Leydig cell insufficiency but, unlike Klinefelder's syndrome, with normal spermiogenesis and fertility. This unusual form of hypogonadism is caused by an inherent LH secretion disorder of the pituitary gland. The result of this is the secondary Leydig cell insufficiency and a corresponding peripheral androgen deficiency. In this communication we present the case of a 67-year-old man with Pasqualini's syndrome and a histologically confirmed left seminoma. In view of the current lack of data and our experience, we describe the properties of this uncommon syndrome; therapy, prognosis and possible relationship with seminoma are discussed in more detail.


METHODS
The 67-year-old male presented in our outpatient department with the urgent suspicion of a left testicular tumour as a painless swelling of the testis since about three months. In the case history we found a previously diagnosed hypogonadotropic hypogonadism, which is described in the literature as the so-called Pasqualini syndrome. On palpation, the left testis was about fist-size, scirrhous, mildly pressure sensitive and highly suspicious. Sonography of the testes revealed the enlarged left testis to be completely inhomogeneous with hypo- and hyperdense areas and large spatial requirements with unremarkable perfusion. On the basis of the clinically and sonographically supported diagnosis of a tumour of the left testis and inguinal exposure of the testes was performed. Intraoperative histology of a sample confirmed the diagnosis of a testicular tumour in the sense of a seminoma. A high left ablatio testis was carried out.


CONCLUSIONS
The occurrence of testicular tumours of the seminoma type in association with Pasqualini's syndrome has not previously been described in the literature. Thus, we assume that the seminoma had occurred at this age independently of the Pasqualini syndrome. For the treatment of Pasqualini's syndrome not only hCG but also testosterone have been employed with success. The patient must continue therapy for his whole life. The results of interruption tests confirm that it is not a passing ailment but rather a persisting, endogenous disease. PRACTICAL CONCLUSIONS: Since the molecular genetics and genesis of this disease have not been clarified unambiguously, further clinical and experimental studies are necessary in order to better understand the disease. An increased risk of testicular tumours has not yet been observed on account of the small number of cases of Pasqualini's syndrome.
Zugor
V
V
Urologische Universitätsklinik mit Poliklinik der Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany. vahudin.zugor@uro.imed.uni-erlangen.de
Dimmler
A
A
Schrott
K M
KM
Schott
G E
GE
D000368:Aged; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D007150:Immunohistochemistry; D008297:Male; D009919:Orchiectomy; D018239:Seminoma / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D013091:Spermatogenesis; D013577:Syndrome; D013736:Testicular Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D013737:Testis / Q000473:pathology; D014463:Ultrasonography