Protocol - Male Reproductive Tract Birth Defects
The male participant answers whether he was ever diagnosed with Cryptorchidism, Hypospadias and/or other related conditions.
The questions were originally asked of partners of pregnant women but the WG recommends asking them of adult males.
Note: Cryptorchidism is failure of one or both of the testes to descend into the scrotum. Hypospadias is a developmental anomaly in which the male urethra opens on the underside of the penis or on the perineum.
1. Were you born with one or both of your testicles undescended (not completely down in the scrotum)?
0[ ]No (go to 5)
2[ ]Don’t know (go to 5)
2. If yes, which testicle was this?
3. Did the testicle go down to the scrotum by itself?
2[ ]Don’t know
4. Did you receive treatment?
2[ ]Don’t know
5. What treatment?
[ ] Surgery
[ ] Hormones
[ ] Other (specify)
[ ] Don’t know
6. Has your doctor or another health care provider ever told you that you had other diseases of the penis, testicles, urinary tract or scrotum (specify)?
7. Has your doctor or another health care provider ever told you that you had hypospadias?
[ ] No
[ ] Yes
8. What was your most recent treatment or medication (if any)?
[ ] Specify
[ ] Don’t Know
[ ] Year
Personnel and Training Required
Paper and pencil
|Specialized requirements for biospecimen collection||No|
|Average time of greater than 15 minutes in an unaffected individual||No|
Mode of Administration
The presence of these physical conditions is often associated with abnormalities of androgen production such as Kallmann’s Syndrome and 5 alpha reductase deficiency, and may be associated with certain chemical exposures in utero. The Study for Future Families’ protocol was selected because it specifically addresses physical exam findings.
|caDSR Common Data Elements (CDE)||Male Reproductive System Birth Defect||3007471||CDE Browser|
|Logical Observation Identifiers Names and Codes (LOINC)||Male reproductive birth defects proto||62664-8||LOINC|
|Human Phenotype Ontology||Hypospadias||HP:0000028||HPO|
|Human Phenotype Ontology||Cryptorchidism||HP:0000047||HPO|
Process and Review
The Expert Review Panel #5 (ERP 5) reviewed the measures in the Reproductive Health domain.
Guidance from ERP 5 includes:
· Revised descriptions of the measure
- Spelling of hypospadias corrected throughout measure
Back-compatible: there are changes to the Data Dictionary, previous version of the Data Dictionary and Variable mapping in Toolkit archive (link)
Protocol Name from Source
Study For Future Families
Swan, S.H., Brazil, C., Drobnis, E.Z., Liu, R.L., Hatch, M., Redmon, J.B., Wang, C., Overstreet, J.M., (2003). Geographic Differences in Semen Quality of Fertile U.S. Males. Environmental Health Perspectives, 111(4): 414-420. Utilizes questionnaire generated by the Study For Future Families
Swan, S.H., Main, K.M., Liu, F., Stewart, S.L., Kruse, R.L., Calafat, A.M., et al; Study for Future Families Research Team. (2005). Decrease in anogenital distance among male infants with prenatal phthalate exposure. Environ Health Perspect., 113(8):1056-61.
|Variable Name||Variable ID||Variable Description||dbGaP Mapping|
|PX100901070000||Has your doctor or another health care more||N/A|
|PX100901060000||Has your doctor or another health care more||N/A|
|PX100901080100||What was your most recent treatment or more||N/A|
|PX100901080200||What was your most recent treatment or more||N/A|
|PX100901080300||What was your most recent treatment or more||N/A|
|PX100901010000||Were you born with one or both of your more||N/A|
|PX100901020000||If yes, which testicle was this?||N/A|
|PX100901030000||Did the testicle go down to the scrotum by itself?||N/A|
|PX100901040000||Did you receive treatment?||N/A|
Male Reproductive Tract Birth Defects
February 26, 2010
Questions to determine whether a male participant has ever had certain conditions that could have developed in utero. Cryptorchidism is failure of one or both of the testes to descend into the scrotum. Hypospadias is a developmental anomaly in which the male urethra opens on the underside of the penis or on the perineum.
The purpose of these questions is to determine whether the participant had ever had the following abnormalities that developed in utero: Cryptorchidism, Hypospadias, and/or other related conditions. These conditions are suspected of being hereditary and/or influenced by environmental factors, may reflect abnormalities of androgen production, and may be passed to offspring.
Reproductive health, male reproductive tract birth defects, male in utero conditions, Cryptorchidism, Hypospadias, penis, testicles, urinary tract