The Journal of Clinical Endocrinology & Metabolism · 1942 · 1.1K citations · 0 references
FertilityPathologyFemale Reproductive SystemReproductive BiologyDermatologyVulvar DiseasesReproductive MedicinePublic HealthSyndrome CharacterizedDisorders Of Sex DevelopmentInfertilityAndrologyReduced ExcretionFollicle-stimulating Hormone1EndocrinologyOvarian HormoneHuman ReproductionUrologyDevelopmental BiologyBilateral GynecomastiaMassachusetts General HospitalMedicineReproductive HormoneEndocrine Disease
The syndrome, beginning in adolescence, is marked by gynecomastia and a specific hypogonadism involving tubular tissue dysfunction, yet it has rarely been reported as a distinct clinical entity. This study reviews the literature and aims to define this syndrome as a distinct clinical entity. The authors examined nine patients (seven from Massachusetts General Hospital and two private) and found that Leydig cell function remains relatively normal while germinal epithelium and Sertoli cell dysfunction underlies the condition. Patients exhibit bilateral gynecomastia, small testes, aspermatogenesis, normal to moderately reduced Leydig activity, elevated FSH, and typically reduced 17‑ketosteroid excretion.
The syndrome under discussion begins during 11 adolescence and is characterised by gynecomastia and a very specific type of hypogonadism. This latter is almost entirely in respect to the function of the tubular tissue (germinal epithelium and Sertoli cells) while the function of the Leydig cells (growth of phallus and prostate and of sexual hair) remains relatively normal. Thus one finds bilateral gynecomastia, small testes, aspermatogenesis. evidence of normal to moderately reduced function of the Leydig cells, increased excretion of follicle-stimulating hormone (FSH), and usually a reduced excretion of 17-ketosteroids. During the last 4 years, 7 cases have been observed in the clinics of the Massachusetts General Hospital; studies on these patients and two additional private patients form the subject of this report. review of literature Although these cases are not uncommon, few reports are found in the literature, and to our knowledge, no author has grouped them together as a definite clinical entity.