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Protocol - Male Reproductive Tract Birth Defects

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Protocol Name from Source:

Study For Future Families

Availability:

Publicly available

Description:

The male participant answers whether he was ever diagnosed with Cryptorchidism, Hypospadias and/or other related conditions.

Protocol:

1. Were you born with one or both of your testicles undescended (not completely down in the scrotum)?

[ ] 0 No (go to 5)

[ ] 1 Yes

[ ] 2 Don’t know (go to 5)

2. If yes, which testicle was this?

[ ] a Right

[ ] b Left

[ ] c Both

3. Did the testicle go down to the scrotum by itself?

[ ] 0 No

[ ] 1 Yes

[ ] 2 Don’t know

4. Did you receive treatment?

[ ] 0 No

[ ] 1 Yes

[ ] 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

None

Equipment Needs

Paper and pencil

Requirements

Requirement CategoryRequired
Average time of greater than 15 minutes in an unaffected individualNo
Major equipmentNo
Specialized requirements for biospecimen collectionNo
Specialized trainingNo

Mode of Administration

Self-administered

Life Stage:

Adult

Specific Instructions:

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.

Research Domain Information

Release Date:

April 11, 2017

Definition

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.

Purpose

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.

Selection Rationale

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.

Language

English

Standards

StandardNameIDSource
Common Data Elements (CDE)Male Reproductive System Birth Defect3007471CDE Browser
Logical Observation Identifiers Names and Codes (LOINC)Male reproductive birth defects proto62664-8LOINC

Process and Review

The [link[www.phenx.org/node/110|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[www.phenxtoolkit.org/index.php?pageLink=browse.archive.protocols&id=100000|link]])

Source

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

General References

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.

Protocol ID:

100901

Variables:

Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX100901_Undescended_Testicle_BornPX100901010000Were you born with one or both of your testicles undescended (not completely down in the scrotum)?4N/A
PX100901_Undescended_Testicle_SpecifyPX100901020000Which testicle was this?4N/A
PX100901_Undescended_Testicle_Down_Scrotum_ItselfPX100901030000Did the testicle go down to the scrotum by itself?4N/A
PX100901_Undescended_Testicle_Receive_TreatmentPX100901040000Did you receive treatment?4N/A
PX100901_Undescended_Testicle_Treatment_SpecifyPX100901050000What treatment?4N/A
PX100901_Disease_Penis_Testicles_Urinary_ScrotumPX100901060000Has your doctor or another health care provider ever told you that you had other diseases of the penis, testicles, urinary tract or scrotum (specify)?4N/A
PX100901_Hypospadius_EverPX100901070000Has your doctor or another health care provider ever told you that you had hypospadius?4N/A
PX100901_Most_Treatment_MedicationPX100901080000What was your most recent treatment or medication (if any)?4N/A
PX100901_Most_Treatment_YearPX100901080100When was your most recent treatment or medication (if any)?4N/A