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.

Dominant transmission of imperforate hymen.

OBJECTIVE: Imperforate hymen is an uncommon anomaly of the reproductive tract, occurring in approximately 0.1% of newborn females. The familial occurrence of imperforate hymen in a child, her mother, and her mother's monozygotic twin is reported. DESIGN: Case report. SETTING: Academic medical center. PATIENT(S): Three affected family members. MAIN OUTCOME MEASURE(S): Karyotype and pedigree analysis. RESULT(S): The proband, presenting with peritonitis, was evaluated at age 12 for imperforate hymen because this condition was diagnosed in her mother at age 14. At age 14, the mother's monozygotic twin was asymptomatic except for primary amenorrhea and was also demonstrated to have imperforate hymen. No other reproductive system abnormalities were known to be present in the remaining family members. Chromosomal structural analysis confirmed that the mother of the proband had no chromosomal abnormalities. CONCLUSION(S): The occurrence of imperforate hymen in two consecutive generations of a family is consistent with a dominant mode of transmission, either sex-linked or autosomal. Previously reported examples of siblings with imperforate hymen suggested a recessive mode of inheritance. Taken together, these cases suggest that imperforate hymen can be caused by mutations in several genes. This case highlights the importance of evaluating all family members of affected patients. Familial examples of other developmental anomalies of the female reproductive tract also suggest a multifactorial genetic etiology.

A new method and apparatus that prevents the rebreathing of expired carbon dioxide of sleeping neonates and infants.

This study was done to measure the effect on inspiratory carbon dioxide (CO2) levels of infants exposed to the infant Crib Air (ICA) apparatus, a novel device which circulates room air within the infant's crib. Twenty-one healthy, sleeping infants and neonates (mean age = 14.7 weeks) were studied in a prospective crossover trial. All infants were studied lying face down or with the face placed passively to the side in their cribs. Inspiratory CO2 levels were recorded over a 30 minute period by measuring the concentration of CO2 immediately adjacent to the infants' nose and mouth. During the first 15 minute period, the baseline concentration of inspiratory CO2 was recorded. The infants were then exposed to the ICA apparatus in their cribs for 15 minutes and the concentrations of inspiratory CO2 were measured. Mean inspiratory CO2 levels in infants lying face down decreased from 8.5 to 1.4 mm Hg after ICA exposure (P < 0.001). Infants studied with their face placed passively to the side experienced a similar decrease in inspired CO2 concentrations. We conclude that the level of inspired CO2 by sleeping infants can be significantly reduced by the ICA regardless of the position of the infant's head.