Clinical Studies in an Adult Male Patient with “Isolated Follicle Stimulating Hormone (FSH) Deficiency”

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Abstract
Previous reports concerning isolated follicle stimulating hormone (FSH) deficiency and its possible pathogenesis have been conflicting. Both “normal” and “abnormal” FSH response to luteinizing hormone releasing hormone (LHRH) infusion have been described. We studied a 22-year-old man with normal basal serum testosterone and luteinizing hormone (LH) levels but undetectable levels of serum FSH. His serum LH titers showed one secretory spike during a 4-hour sampling at 20-minute intervals, whereas his serum FSH titers remained undetectable (125I] FSH with the patient's serum and comparing it with sera obtained from two normal male adult volunteers. Pituitary function tests were otherwise intact. Presence of a pituitary tumor was excluded by computerized axial tomography and x-ray studies of the pituitary fossa and normal visual fields. Clinically, the patient demonstrated cryptorchidism, hypospadias, surgically repaired omphalocele, and bilateral hearing loss. Family history for such disorders was negative. Although the initial response of serum FSH in our patient to LHRH stimulation was abnormal, “priming” the patient with LHRH prior to another infusion normalized the response. These data support the hypothesis that in this patient, the pituitary was potentially capable of normal FSH secretion despite undetectable basal levels.

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