Protocol - Male Reproductive Tract Birth Defects

Personnel and Training Required

None

Equipment Needs

Paper and pencil

Requirements

Requirement Category	Required
Major equipment	No
Specialized training	No
Specialized requirements for biospecimen collection	No
Average time of greater than 15 minutes in an unaffected individual	No

Mode of Administration

Self-administered questionnaire

Lifestage

Adult

Participants

Males 18-53

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

Chinese, English

Standards

Standard	Name	ID	Source
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

Derived Variables

None

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

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 Name	Variable ID	Variable Description	dbGaP Mapping
PX100901_Male_Reproductive_Tract_Birth_Defects_Medical_Diagnosis_Hypospadias
	PX100901070000	Has your doctor or another health care more provider ever told you that you had hypospadias? show less	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Medical_Diagnosis_Penis_Scotum_Urinary_Tract_Testicles
	PX100901060000	Has your doctor or another health care more provider ever told you that you had other diseases of the penis, testicles, urinary tract or scrotum (specify)? show less	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Recent_Treatment
	PX100901080100	What was your most recent treatment or more medication (if any)? show less	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Recent_Treatment_Encoded
	PX100901080200	What was your most recent treatment or more medication (if any)? show less	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Recent_Treatment_Year
	PX100901080300	What was your most recent treatment or more medication (if any)? show less	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Testicles_Undescended
	PX100901010000	Were you born with one or both of your more testicles undescended (not completely down in the scrotum)? show less	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Testicles_Undescended_Specify
	PX100901020000	If yes, which testicle was this?	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Testicle_Scrotum
	PX100901030000	Did the testicle go down to the scrotum by itself?	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Treatment
	PX100901040000	Did you receive treatment?	N/A
PX100901_Male_Reproductive_Tract_Birth_Defects_Treatment_Type
	PX100901050000	What treatment?	N/A

Reproductive Health

Measure Name

Male Reproductive Tract Birth Defects

Release Date

February 26, 2010

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.

Keywords

Reproductive health, male reproductive tract birth defects, male in utero conditions, Cryptorchidism, Hypospadias, penis, testicles, urinary tract

Measure Protocols

Protocol ID	Protocol Name
100901	Male Reproductive Tract Birth Defects

Publications

There are no publications listed for this protocol.