XX TRUE HERMAPHRODITISM ASSOCIATED TO MULTIPLE MALFORMATION. ABSENCE OF Y-SPECIFIC DNA SEQUENCES AND NORMAL H-Y ANTIGEN EXPRESSION

Abstract

True hermaphroditism occurs when ovarian and testicular tissues are present in the same patient and usually is not associated to other malformation. We studied a patient with ambiguous genitalia from day 6 of life, phallus measured 3 cm, urethral and vaginal orifices were separate, slight posterior labial fusion and left(L) gonad palpable in the inguinal region, X̄ chromatin on buccal smear was positive 28% and karyotype in peripheral lymphocytes 46.XX. hCG stimulation resulted in great testosterone increase (<10 to 832 ng/dl). Ultrasonography revealed uterus and tubes but no intrabdominal gonads. The patient was assigned a female sex and at 16 month exploratory laparotomy revealed uterus, tubes, an ovary on the right(R) and an ovotestis on the 1, which was removed. The patient had multiple malformation; cranial assymetry, telecantum greater on the L, low nasal bridge, fat and cutaneous hypertrophy in lower limbs and gluteus and with keratosis, specially on the dorsum of R foot. On the feet: normal halux on L and with clinodactiTia on the R, 2nd. finger with bilateral macrodactilia and R Clinidactilia and 4th. finger with bilateral campodactilia and L macrodactilia. Growth was normal (Ht. 73.6 cm at ly. 1mo.). The parents were young and not consanguineous and denied affected relatives. The mother was medicated, with piperidolate hydrochloride in the first trimester and ampicilin and cephalotin for urinary infection on the 4th, month of gestation, The patient was born full term with 3.400 g and 46 cm lenqth and had hypoglycemia. The patient had no Y-specific UNA sequences, as detected by ZFY probe in Southern hybridizations (the probe corresponds to a Y chromosome region encompassing the socalled testis determining factor gene, or TD(-). Expression of H-Y antigen assayed with monoclonal anti-H-Y antibody and an ELISA was normal. Although hermaphroditism and malformations could be unrelated, one can speculate that alteration of a single autosomal or X-linked locus could have caused the patients's condition. This work was sponsored partially by a grant from