Julia S. Barthold, M.D.

Associate Chief, Division of Urology, A.I. duPont Hospital for Children
Associate Professor of Urology & Pediatrics, Thomas Jefferson University

Contact

Department of Biomedical Research
A.I. duPont Hospital for Children
Nemours Childrens' Clinic
H3D-292
1600 Rockland Road
WIlmington, DE 19803

Phone: (302) 651-5986
Fax: (302) 651-6410
E-mail: jbarthol@nemours.org

Education

B.S., M.D.: Northwestern University
Postdoctoral: Wayne State University
Postdoctoral: Cornell University

Research Interests

The efforts of the Urology Research lab are directed toward identifying the genetic and environmental causes of one of the most common congenital anomalies seen in man, cryptorchidism (undescended testis, UDT). This complex disease is likely the result of gene-environment interaction, and is associated with impaired fertility and risk of testicular cancer. Ongoing studies in our laboratory are focused on the molecular genetics of normal and abnormal testicular descent using a rat model of congenital UDT (the LE/orl rat) and in studies of our large UDT patient population. We are studying the LE/orl rat in order to identify which pathways fail in the pathogenesis of the disease, and to identify the gene mutation(s) that are present in this rat colony. This will allow better understanding of the mechanisms by which genetic mutations and environmental toxins may lead to cryptorchidism. After identifying candidate genes associated with UDT in the rat, we will study these, as well as other previously identified candidates, in humans. We will look for variations in the DNA sequence and expression of these genes in boys with the disease, and will study testis development in order to identify risk factors for impaired testicular germ cell development in cryptorchid patients. Our long-term goal is to identify markers for genetic and environmental causes of UDT that may also be used to identify individuals at risk for infertility and malignancy, and optimize our treatment of this common disease.

Current Projects

• Linkage analysis of the UDT phenotype in the orl rat
• Analysis of candidate genes for UDT in human and rat
• Analysis of gene and protein expression in fetal gubernaculum
• Development of gene-environment models of UDT in the orl rat

Research Group

• Kamin Johnson, Ph.D. - Research Scientist
• Robyn Becker - Senior Research Assistant
• Alan Robbins - Research Associate

Selected Publications

Wang Y, Barthold J, Figueroa E, González R, Noh PH, Wang M and Manson J: Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism. Birth Defects Res A Clin Mol Teratol, in press.

Barthold JS, McCahan SM, Singh AV, Knudsen TB, Si X, Campion L and Akins RE: Altered expression of muscle- and cytoskeleton-related genes in a rat strain with inherited cryptorchidism. J Androl, 2008 Jan 24; [Epub ahead of print].

Wang Y, Barthold J, Kanetsky PA, Casalunovo T, Pearson E, Manson J. Allelic variants in HOX genes in cryptorchidism. Birth Defects Res A Clin Mol Teratol, 79:269-75, 2007.

Barthold JS, Si X, Stabley D, Sol-Church K, McCahan SM: Failure of shortening and inversion of the perinatal gubernaculum in the cryptorchid LE/orl rat. J Urol, 176:1612-1617, 2006.

Barthold JS: Commentary: Is adjuvant hormonal therapy indicated in cryptorchidism? Nat Clin Pract Urol, 2:366-367, 2005.

Barthold JS, Manson J, Regan V, Si X, Hassink SG, Coughlin MT and Lee PA: Reproductive hormone levels in cryptorchid infants during postnatal activation of the pituitary-testicular axis. J Urol, 172:1736-1741, 2004.

Barthold JS, Gonzalez R: The epidemiology of congenital cryptorchidism, testicular ascent and orchidopexy. J Urol, 170:2396-2401, 2003.

Barthold JS, Kumasi-Rivers K, Upadhyay J, Shekarriz B, Imperato-McGinley J: Testicular position in androgen insensitivity syndrome: implications for the role of androgens in testicular descent. J Urol, 164:497, 2000.

Barthold JS, Redman JF: Association of epididymal anomalies with patent processus vaginalis in hernia, hydrocele and cryptorchidism. J Urol, 156:2054-2056, 1996.

Barthold JS, Newton BW, Mahler HR, Sziszak TJ: Lack of feminization of the cremaster nucleus by prenatal flutamide administration in the rat and pig. J Urol, 156:767-771, 1996.

Barthold JS, Mahler HR, Newton BW: Lack of feminization of the cremaster nucleus in cryptorchid androgen insensitive rats. J Urol, 152:2280-2286, 1994.

Spencer JR, Vaughan ED, Jr, and Imperato-McGinley J: Studies of the role of androgens in the postnatal phase of testicular descent in the rat. J Urol, 149:618-623, 1993.

Imperato-McGinley J, Sanchez RS, Spencer JR and Vaughan ED, Jr.: Comparison of the effects of the 5α-reductase inhibitor finasteride and the antiandrogen flutamide on prostate and genital differentiation: dose-response studies. Endocrinology, 131:1149-1156, 1992.

Spencer JR, Torrado T, Sanchez RS, Vaughan ED, Jr. and Imperato-McGinley J: Effects of flutamide and finasteride on rat testicular descent. Endocrinology, 129:741-748, 1990.