Cytogenetic and endocrine studies in a 45,X female subject with spontaneous sexual development

Cytogenetic and endocrine evaluation of a postpubertal 45,X female subject with Turner's stigmas and spontaneous sexual development was performed. A 45,X chromosomal complement was found in the peripheral blood lymphocytes, bone marrow, and fibroblasts derived from skin and ovaries. Menarche, pubarche, and thelarche occurred at age 12; at age 16 she developed menstrual irregularities, with endometrial bleeding occurring every 60 to 90 days. The ovaries were normal in size, and histologic examination revealed a marked paucity of primordial follicles, increased collagenization, and absence of corpora albicans. Anovulatory cycles with moderately elevated levels of luteinizing hormone (LH) and low follicle-stimulating hormone (FSH) levels were observed. LH-releasing hormone pituitary stimulation induced a normal LH release with a very slight FSH increase. Administration of clomiphene citrate successfully induced a normal-length ovulatory cycle. Similarities in the hormonal situation of this patient and that seen in the Stein-Leventhal syndrome are pointed out.