Ann Jeanette Davis

Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: Outcomes of surrogate pregnancies

OBJECTIVEnTo determine the inheritance pattern of congenital absence of the uterus and vagina in affected women undergoing surrogacy IVF with this disorder.nnnDESIGNnRetrospective study.nnnSETTINGnA hospital-based reproductive endocrinology and infertility center.nnnPATIENT(S)nWomen diagnosed with congenital absence of the uterus and vagina undergoing IVF with subsequent transfer of embryos to a surrogate uterus.nnnINTERVENTION(S)nQuestionnaires were sent to all infertility treatment centers performing surrogate procedures.nnnMAIN OUTCOME MEASURE(S)nNumber, gender, and frequency of congenital anomalies in progeny.nnnRESULT(S)nThirty-two of 53 surveyed programs responded (60%). One hundred sixty-two IVF cycles were performed, and 34 liveborn children were delivered (half female). No congenital anomalies were found, except for one male child with a middle ear defect and hearing loss.nnnCONCLUSION(S)nThese results strongly suggest that congenital absence of the uterus and vagina, if genetically transmitted, is not inherited commonly in a dominant fashion.

Ovarian activity in women taking an oral contraceptive containing 20 μg ethinyl estradiol and 150 μg desogestrel: Effects of low estrogen doses during the hormone-free interval

OBJECTIVEnWe assessed the effect of low ethinyl estradiol doses given during the nominally hormone-free interval of the Mircette (brand of desogestrel/ethinyl estradiol and ethinyl estradiol) contraceptive regimen on ovarian activity.nnnSTUDY DESIGNnIn a randomized, double-blind study, healthy women received 150 microg desogestrel and 20 microg ethinyl estradiol for 21 days followed by either placebo for 7 days (Mircette/placebo; N = 24) or placebo for 2 days and 10 microg ethinyl estradiol for 5 days (Mircette/ethinyl estradiol; N = 23).nnnRESULTSnDuring cycles 2 and 3, the Mircette/placebo group had a higher incidence of persistent ovarian follicles (eight subjects versus three subjects) and on average a greater maximum follicle diameter than the Mircette/ethinyl estradiol group. One Mircette/placebo subject probably ovulated in cycle 2, and another had a luteinized unruptured follicle; no such activity was seen in the in the Mircette/ethinyl estradiol group. The study medication was well tolerated, and there were no apparent between-group differences in vaginal bleeding patterns.nnnCONCLUSIONnThe Mircette regimen, which includes low ethinyl estradiol doses during the hormone-free interval, more effectively suppresses ovarian follicular activity with a low monthly estrogen dose.

Role for anti-Müllerian hormone in congenital absence of the uterus and vagina.

Molecular genetic techniques were used to determine if mutations in the genes encoding anti-Müllerian hormone (AMH) (also known as Müllerian inhibiting substance (MIS)) and its receptor (AMHR) are commonly present in patients with congenital absence of the uterus and vagina (CAUV). Twenty-two CAUV patients and 96 control subjects from diverse ethnic groups were studied after obtaining informed consent. Genomic DNA samples prepared from leukocytes were digested separately with several different restriction enzymes, and the resultant fragments were analyzed for restriction fragment melting polymorphisms (RFMPs) by denaturing gradient gel electrophoresis (DGGE). Electrophoretic mobility of DNA fragments which were 200-700 base pairs in length was compared using polyacrylamide gels that included linear gradients of denaturing solvents designed to separate DNA fragments according to sequence-dependent variation in thermal stability. Two RFMPs were found in the AMH gene in both patients and normal control subjects. One RFMP in the AMHR gene was present at low frequencies in both patients and normal control subjects. No RFMPs specific to CAUV patients were found in either gene. Because no mutations or rare DNA sequence polymorphisms were detected in the AMH and the AMHR genes in this group of CAUV patients, it is unlikely that either gene commonly has an etiologic role in CAUV.

Canalization failure of the müllerian tract

A patient is described with canalization failure of the müllerian system. This patient presented with primary amenorrhea and absence of the vagina. At the time of laparotomy, a uterus of normal size and shape was found with two small areas of canalization. This syndrome, associated with absence of the vagina, appears to result from a defect occurring later in development than does classical müllerian aplasia. Pathological examination of the patients uterus supports the tenant that canalization begins after fusion and at various places along the line of fusion.

Over-the-counter oral contraceptives: The adolescent health care providers' perspective

Abstract Objective: To survey the opinions of adolescent health care providers regarding the availability of over-the-counter (OTC) oral contraceptives (OCs) to adolescents and whether this intervention may decrease the number of unintended adolescent pregnancies. Methods: Academic hospitals, neighborhood health centers, and family planning centers in the city of Boston were contacted. The health care providers who were most involved in adolescent contraceptive counseling were surveyed. Results: Forty-nine providers participated. Ninety percent of providers (44 of 49) were against making OCs available OTC to adolescents. Seventy-three percent did not think that OTC OCs would decrease the number of unintended adolescent pregnancies. Conclusions: Our survey shows that adolescent health care providers surveyed in Boston are opposed to making OCs available to adolescents over the counter. The majority do not think this would decrease the number of unintended adolescent pregnancies. The providers predicted that without the interactive counseling provided by clinicians, adolescents would be unlikely to utilize OCs effectively. Additionally, adolescents would be seen less for sexually transmitted diseases (STDs) screening and other routine health care.

Human chorionic gonadotropin in pediatric and adolescent gynecology

Abstract Testing for the beta subunit of human chorionic gonadotropin (β-hCG) has many important applications to pediatric and adolescent gynecology. The production of β-hCG is the basis of all modern pregnancy tests. Levels of hCG are valuable in the diagnosis of ectopic pregnancy, nonviable intrauterine pregnancies, and the follow-up of molar pregnancies to exclude gestational trophoblastic disease. Human chorionic gonadotropin may also be produced by ovarian malignancies. Radioimmunoassays are used to obtain levels of hCG. These can be assayed against different standards, with significantly different expected values. Modern technology has made available enzyme-linked immunosorbent assays which use urine as a test medium. These quick urine tests diagnose very early pregnancy and are adequate screening tests in cases of suspected ectopic pregnancy.