There have been some reports of mammary hypoplasia caused by defects of the pectoralis major muscle, as in Poland syndrome, or chromosomal aberrations. However, bilateral mammary hypoplasia caused by hormone receptor abnormalities has not been reported. We report an 18-year-old female patient with this disorder and discuss the indications of mammary bags.
CASE REPORTAn 18-year-old female nursing student had bilateral mammary hypoplasia without remarkable history or family history. She had been healthy since birth, had menarche at the age of 13 years, and developed pubes normally. However, her breasts did not grow. At the age of 16 years, estrogen therapy was administered for 6 months at the pediatric department, but no response was observed. She could not wear brassieres even at the age of 18 years and was referred to our department.She was 151 cm tall and weighed 42 kg. The results of routine blood examination, blood cell counts, and physical findings were normal. She was normal and healthy in appearance, except for the breasts. The external genitalia were normal, and the vagina, uterus, and ovaries showed normal growth. The chromosomes were normal (46XX), and the menstrual cycle was 28 days. Hormone secretion was also normal (luteinizing hormone, 7.0 mIU/ml; follicle-stimulating hormone, 5.6 mIU/ml; estrogen 2, 14 to 35 pg/ml; estrogen 3, 10 ng/ml; progesterone, 0.5 ng/ml; prolactin, 3.1 ng/ml; thyrotropin, 0.82 IU/ml; triiodothyronine, 0.96 ng/ ml; and thyroxine, 9.0 g/dl). In the thorax, the pectoralis major muscle was normally palpated, but there were no mammary elevations (Fig. 1, above). There were bilateral areolae and adequately protruded nipples, but the diameters of the bilateral areolae and nipples were rather short (25 and 10 mm, respectively). Biopsy of the mammary gland was performed in the secretion phase of the menstrual cycle, and examination of hormone receptors (ER-EIA and PR-EIA; Abbott Laboratories, Abbott Park, Ill.) 1 showed negative results (estrogen receptors and progesterone receptors Յ 5.0 fmol/mg protein each). Surgery was performed under general anesthesia. A small FIG. 1. (Above) An 18-year-old female patient before operation. No mammary elevations were observed, and the areolae and nipples were rather small. (Below) At 1 year after operation, the breasts had maintained their natural softness, showing a good course. 975