Subject(s)
Abnormalities, Multiple/diagnosis , Chromosomes, Human, Pair 14 , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Mosaicism/diagnosis , Agenesis of Corpus Callosum , Female , Follow-Up Studies , Humans , Infant , Optic Nerve/abnormalities , Tetralogy of Fallot/diagnosis , Tetralogy of Fallot/surgeryABSTRACT
Persistent müllerian syndrome is rare. A case of phenotypically normal male with persistent müllerian structures that consisted of a bicornuate uterus, fallopian tubes, and upper third of the vagina is reported. These unusual structures were found in association with bilateral cryptorchidism and a right inguinal hernia, and were diagnosed while repairing the hernia in the neonatal period. The uterus and fallopian tubes were removed via laparotomy when the child was eighteen months old; at the same time a bilateral orchiopexy was performed. To avoid damage to the vas deferens, which lay in closely to the müllerian structures and could not be separated from the vaginal wall, a small segment of the upper third of the vagina was retained. The testicles, although normal on pathologic examination, have shown poor response to hormonal stimulation with human chorionic gonadotropin. Long-term follow-up for these patients is necessary because they have an increased risk of testicular tumors developing.
Subject(s)
Mullerian Ducts/abnormalities , Cryptorchidism/complications , Cryptorchidism/surgery , Hernia, Inguinal/complications , Hernia, Inguinal/surgery , Humans , Infant, Newborn , Male , Mullerian Ducts/surgery , SyndromeABSTRACT
Mothers of children with Down syndrome were surveyed by questionnaire concerning their attitudes about amniocentesis, prenatal genetic counseling, and abortion. Of the 101 who responded, 40 had borne children after giving birth to a child with Down syndrome. Half had amniocentesis in subsequent pregnancies but only half of these said they would abort the pregnancy if Down syndrome was confirmed. Extreme variations in opinions were noted among the replies. Recognizing patient ambivalence and attempting to provide counseling that represents both positive and negative data about Down syndrome may help physicians avoid conflicts with patients who request prenatal genetic counseling.