UroToday.com - The first lecture of the day by Maria I. New, MD from the Mount Sinai Hospital in New York City was entitled, “An Update on Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia.” The lecture focused on the prenatal treatment of Congenital Adrenal Hyperplasia (CAH) and some of the physiology and phenotypes of the disease.

CAH females with an increase of 17-hydroxyprogesterone are XX and reared as females based on the fact that they have normal internal female genital structures. Males with CAH typically have a large phallus but with small testes. There is a non-classic heterozygotic form that affects a significant number of the population and may be responsible for a high number of infertility cases. For example, there is a high incidence in the Eastern European Jewish lineage as high as 1 out of 34 individuals according to Dr. New. The virilization is described on a Prader score between 0 and 5 where 0 is a normal appearing female and 5 a normal virilized male.

Prenatal diagnosis is based on high risk history of the presence of CAH in a relative or the parent themselves. Dr. New advocates starting Dexamethasone at 20 micrograms/kg/day in three divided doses regardless of knowing the sex of the baby. Dexamethasone is used because it is unbound and not metabolized by the placenta. During the pregnancy, a FISH test is performed. If a male fetus is present, then stop. If there is a female fetus, continue the treatment if she is affected. There has been no evidence of increased hypertension or diabetes in mothers treated with Dexamethasone, however, there is a side effect of striae formation. Overall, a safe modality that is well tolerated and can save the child surgery after birth.

The second lecture by Kenneth Zucker, PhD, C Psych from Toronto, Canada was entitled, “Intersexuality and Psychosocial Differentiation.” The lecture focused on three clinical issues: (1) which sex? Which gender? ; (2) Should surgery be done to “normalize” appearance; and (3) does surgery impair sexual function? Dr. Zucker stated that intersex should be considered a third sex, but this may be difficult for society to accept. There are many factors involved in sexual identity and biologic sex plays a partial role with genes, hormones, and external genitalia. Dr. Zucker discussed a study that showed girls with CAH had the same amniotic fluid testosterone levels as normal males.

Parameters of sexuality are: (1) gender identity; (2) role playing, which starts at an early age; (3) sexual orientation; and (4) sexual identity. Typically with CAH, gender identity is typically that of sex of rearing, although some exhibit a masculinized gender role and increased bisexual and homosexuality. Dr. Zucker hypothesizes that this may be due to increased prenatal androgens. It seems that the idea of androgen imprinting does not play a role in CAH patients. Sexual identity is a subjective arena that seems to fall into quality of life issues that individual may have or need.

Therefore, should genital surgery be performed in infancy? There are arguments against it: (1) it is purely cosmetic; (2) you should have the patient's informed consent; (3) the potential impact on sexual function; and (4) the possible effect on gender identity. The physiologic response to sexual stimulation is obvious in men, but is a more complex physiologic phenomenon in women. The process of orgasm itself is more complex, for example, less than 20% of women reliably achieve orgasm via penile vaginal penetration alone. The profound complexities of sexual identity, especial in intersex and ambiguous genitalia require more research to help answer that age old question when a child is born, “Is it a boy or a girl?” It is not always that simple.

The day continued with abstracts. Dr Califano from the University of Oklahoma discussed adrenal hemorrhage in newborns with the diagnosis and management. The outcome is that surgery is rarely indicated. It is usually implemented when the baby is hemodynamically unstable. Dr. Confer from the University of Oklahoma discussed their abstract of Pune Belly Syndrome with one undescended testis. They discussed the history of valves and commented on the possible etiologies, i.e. a “urethral valve” or mesenchyme abnormalities. Their conclusion was that these over distended bladders may hinder testicular descent. Dr. Hseih discussed two sisters with CAH 21OH deficiency with varying degrees of virilization based on the antenatal treatment with dexamethasone. The sister that had treatment showed a lower Prader score, 3 verses 5 when compared to the untreated sister. Dr. Pippi Salle of Toronto Sick Children showed a presentation on a non-ablative approach to clitoroplasty with preservation of the nerves and corpora. The corpora are brought into the newly constructed labia until the patient can decide on further treatment, especially if the patient desired a penis. Dr. Poppas pointed out that if corporal disassembly is performed, the nerves would be difficult to save on a second operation. Also, the corporeal bodied would be fibrosed in the labia making this dissection very difficult.

The next abstract by Dr. Oguejiofor from Oklahoma discussed their experience with the prenatal diagnosis and management of congenital mesoblastic nephroma and neuroblastomas in neonates. They found that MRI is helpful with no added morbidity to the patient or mother. Dr. Baker presented Juvenile Granulosa Cell Tumor in a 45, XO/46, XY intersex child. There have been only six cases in the literature to date with ambiguous genitalia. The tumor in their patient was an intermediate stromal tumor. Dr. Gomez from Miami, Florida, USA discussed neonatal testicular tumor, also a granulosa cell tumor. They are benign in neonates and aggressive in older children. Dr. Prieto discussed Multicystic Dysplastic Kidney (MCDK) and a case involving a segmentally affected horseshoe kidney. Their review showed that for all MCDK, 35% had a UPJO, 10% were duplex, 50% had VUR, and 4% hypospadias. The overall incidence of MCDK is 1:4300. Approximately 30% of patients with a horseshoe kidney have some other form of congential abnormality such as heart, limb, or lung. The next abstract by Dr. Leslie from Indiana University discussed the puncturing of a prolapsing ureterocele that was causing bladder outlet obstruction in utero with an acute oligohydramnios and contralateral perinephric urinoma. Dr. Elmore from Emory University in Atlanta, Georgia showed a laparoscopic approach to Familial Transverse Testicular Ectopia and their case had an associated persistent Mullerian Duct Syndrome. They also discussed that 98% of these patients have an inguinal hernia and 30% have a persistent Mullerian Duct Syndrome. The next abstract dealt with the use of MRU in the diagnosis of UPJO in ectopic kidneys. There is an overall 37% of UPJO in ectopic kidneys. They utilized contrast perfusion values that correlate to GFR and degrees of obstruction and function. The last presentation of the day was by Dr. Chang from the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA on a 7 year old child presenting with ambiguous genitalia. This child had a femal circumcision performed. They discussed four types of female circumcision. Type I - Sunna (partial or complete clitorectomy); type II - type I with removal of the labia minora; type III - infibulation that constitutes type II with removal of the labia majora as well along with reapproximation causing a small introitus; type IV - piercing, burning, or stabbing of the genitalia to cause scarring and a change in external appearance. It is not driven by religion and seems more cultural.

The meeting ended with the award for best presentation. It was given to Dr. Molitierno and his colleagues on the use of MRU in diagnosing UPJO. Congratulations to all the presenters for an excellent meeting.

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