Vaginal Absence Syndromes

Thomas M. Price and G. William Bates

Müllerian agenesis or Mayer-Rokitansky-Küster-Hauser syndrome is the most common cause of primary amenorrhea in women with normal breast development, with an incidence of one in 5,000. This syndrome originally was described by Mayer in 1829 and then redescribed by Rokitansky in 1838. Typically, the vagina that is proximal to the hymen and the uterus fail to develop. Visual inspection of the pelvis often shows bilateral small muscular swellings at the proximal end of each fallopian tube. The uterine anlagen usually are rudimentary, with functional endometrium found in less than 10% of cases. The ovaries are normal; thus, all other aspects of puberty, including breast development, pubic hair development, and growth spurt, occur as expected. The etiology of müllerian agenesis remains unknown. The discovery of homeobox genes responsible for segmental development in lower animals may provide a clue to the cause of this syndrome. Occasionally, young women with müllerian agenesis will complain of cyclic pelvic pain. In this situation, a functional uterine anlagen needs to be excluded, but the transient discomfort more often is due to periovulatory pain. Typically, Rokitansky syndrome is sporadic. In 40% to 50% of cases, associated renal abnormalities, including renal agenesis, ectopic kidney, horseshoe kidney, and duplication of the collecting system, are found. Bony abnormalities in 10% to 15% of cases typically are found in the axial skeleton, including hemivertebra leading to scoliosis, missing and abnormal ribs, and pelvic bone abnormalities. Other syndromes involving müllerian agenesis have been described. MURCS association includes müllerian agenesis, renal aplasia, and cervicothoracic spinal deformities. Other cases of vaginal agenesis have been associated with congenital deafness due to developmental abnormalities of the malleus, stapes, and incus bones. Finally, cases of müllerian agenesis have been associated with abnormalities of the distal extremities, instead of the axial skeleton, such as missing and abnormal digits. These cases, characterized by hand-foot-uterus syndrome, usually are inherited in an autosomal dominant manner.

Androgen insensitivity syndrome (AIS), also called testicular feminization syndrome, is a less common cause of primary amenorrhea with breast development. This X-linked disorder is caused by an abnormality of the gene for the androgen receptor located on the long arm of the X chromosome. More than 100 different gene defects, including deletions and point mutations, have been described. Most mutations result in complete inactivity of the receptor. The presentation is of a genetic male appearing as a phenotypical female lacking signs of androgen expression. Testes usually are intraabdominal, but they also may be herniated into the labia. The normal secretion of müllerian inhibitory factor (MIF) results in lack of development of the upper vagina, uterus, and fallopian tubes. In addition, the lack of a functional androgen receptor results in absence of male internal structures such as vas deferens, seminal vesicles, and prostate. Affected persons appear as normal females at birth. With puberty, breast development ensues due to peripheral conversion of circulating androgens to estrogen. Breast development often is abundant due to the lack of any opposing androgen effect. Pubic and axillary hair is scant to absent and is the main distinguishing characteristic of this syndrome. The vagina is shortened but often not to the extent as seen with müllerian agenesis. Circulating testosterone levels are in the high-normal range for a male. This is due to higher than normal levels of LH because of lack of appropriate negative feedback to the pituitary. Unlike müllerian agenesis, concomitant renal or skeletal abnormalities are not found with AIS. Less commonly, mutations of the androgen receptor lead to a partially active receptor with androgen expression. The presentation includes ambiguous genitalia at birth, with clitoral enlargement and fusion of labioscrotal folds. Virilization occurs at puberty to a degree that depends on the activity of the receptor.

Mechanical Engineer SABIC

JOB OPPORTUNITY

Saudi Basic Industries Corporation (SABIC) represents Saudi Arabia’s industrial Image, a world-class manufacturer of basic chemicals, fertilizers, polymers and metals. SABIC was established in 1976 and ranks today among the world s top five petrochemical companies. It has more than 45 manufacturing sites worldwide, of which 20 are in Saudi Arabia. SABIC has operations in more than 40 countries, besides marketing and investment divisions based at its headquarters in Riyadh. It has the strength of more than 31,000 highly skilled and satisfied employees. For more information about SABIC, please visit our website: www.sabic.com. SABIC is having job opportunities to fill the following positions located at Jubail Industrial City, Saudi Arabia. Competitive salary, free accommodation, transportation, flights home, bonuses, full medical coverage, and child education assistance. For more information about SABIC, please visit our website: www.sabic.com ft www.saudikayan.com

Now, one of SABIC s affiliate SAUDI KAYAN PETROCHEMICAL COMPANY (KAYAN) is in need to the qualified candidates to fill some positions with term and condition below:

MECHANICAL ENGINEER

The candidate must have a BS Degree in Mechanical Engineering. 5-10 year of work experience in troubleshooting, overhauling and repair of all rotating equipment in petrochemical plants with strong Condition Monitoring experience on Rotating Equipment Preventive and Predictive Maintenance program set up and execution, On-line and Off-line Vibration Analysis and RCA. He needs to have good English language. Good knowledge on SAP PM and MM modules will be an advantage.

Send the CV & Application to: sk-me@herotama.com

PT. HEROTAMA INDONUSA
JI. TB. Simatupang Bo. 6 Jatipadang, Ps. Minggu – Jakarta 12540
Tel. 021-789 1349 / 7883 9074, website: www.herotama.com
The Vacancies for Male only