{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0009916/OMIM:264300","label":"Pseudohermaphroditism, male, with gynecomastia","mondoId":"MONDO:0009916","onsetQualifier":null,"recordKeys":["0e429686502b14181aee4dd75f280bc0d041b698f9d2cc286a3e4e601f339357","1fc2be97e6f0af8b227fd16bcbde163eff8cfba0715a56b8fe54d0736799ce56","215c6e5d5a58cfcc368cb5e6d12800f554c66e8084ea564afc32a5efb4e47d42","6c6394fa4adfe5af3aa6103e19cebe96bfd1600b228fa44deabce83084adf115","a2c038ccf6111e86399363ab52068d2575e219fb69e94ce865479818018cd1a4","ab3ac2fb0ee7f250cdb86b29d206de2a3fc89939cead6807cf2faa1033be22a6"],"recordQualifiers":{},"scopeLabel":"OMIM:264300","sourceIds":["OMIM:264300"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009916/ORPHA:752","label":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","mondoId":"MONDO:0009916","onsetQualifier":null,"recordKeys":["33e34c65469b297079bf3df62d30046e9e748bd7a6dcbb6c736e06c89fd23abc","3c20ca7b7dec71f840e194690cf7d79d30741ab577252bda31ace553b3add176","4853fb73673bde46dbe791df229ad44320546b70c48e782c6edb4a3eebac774a","7c1ff56a56f2c4b109ff54d25e331bff07e961145d4d69d1bd31cafc6da8cb4c","a98a141aeb3580e0db3b826a42d528fd78c34aa9e2a10afc683f78243876ab8e","b18dc570ccfee3869486fd3f71c4aacdfcab2d9a04e2cab67b4657c2a606a404","cbfdeb53199bb515cd2399c26fb45f65d836016b6e4717ec9669526cf89404af","cf4b775753de8a6bb7c449c57a1294f0eb5494bc19e593513cfb20c05e04a12e","ec3b0f9449c566bdc8060c8a433a6e870125a8a42bf4c35b0d8966176156c6c9","ed8271b2d9bb8d9edba23cbe3583229a40f34ccc332b07fd57978fd299cdc2eb","efb29bfc6f6aac137fc0b0ba486fcf5953ce899ee0dfe39c89219798497b91a4","ffc8dc870e721c8bfced6cd3e900792e8339cfa9e2d05b9827f6ce5416d09006"],"recordQualifiers":{},"scopeLabel":"ORPHA:752","sourceIds":["ORPHA:752"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0009916/OMIM:264300","MONDO:0009916/ORPHA:752"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":1,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":18,"sourceGroups":{"omim":5,"orphanet":12,"published":1}},"features":[{"hpoId":"HP:0001939","label":"Abnormality of metabolism/homeostasis","primary":false},{"hpoId":"HP:0000062","label":"Ambiguous genitalia","primary":false},{"hpoId":"HP:0000048","label":"Bifid scrotum","primary":false},{"hpoId":"HP:0008665","label":"Clitoral hypertrophy","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","primary":false},{"hpoId":"HP:0000771","label":"Gynecomastia","primary":false},{"hpoId":"HP:0008736","label":"Hypoplasia of penis","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0000821","label":"Hypothyroidism","primary":false},{"hpoId":"HP:0025380","label":"Increased circulating androstenedione concentration","primary":false},{"hpoId":"HP:0000789","label":"Infertility","primary":false},{"hpoId":"HP:0000023","label":"Inguinal hernia","primary":false},{"hpoId":"HP:0000037","label":"Male pseudohermaphroditism","primary":false},{"hpoId":"HP:0100779","label":"Urogenital sinus anomaly","primary":false}],"ledeHtml":"17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.","mondoId":"MONDO:0009916","records":[{"frequencyKind":"reported","key":"0e429686502b14181aee4dd75f280bc0d041b698f9d2cc286a3e4e601f339357","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:264300","disease_name":"Pseudohermaphroditism, male, with gynecomastia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001939","is_excluded":false,"label":"Abnormality of metabolism/homeostasis","onset_id":null,"reference":"OMIM:264300","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1fc2be97e6f0af8b227fd16bcbde163eff8cfba0715a56b8fe54d0736799ce56","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:264300","disease_name":"Pseudohermaphroditism, male, with gynecomastia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000771","is_excluded":false,"label":"Gynecomastia","onset_id":null,"reference":"OMIM:264300","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"215c6e5d5a58cfcc368cb5e6d12800f554c66e8084ea564afc32a5efb4e47d42","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:264300","disease_name":"Pseudohermaphroditism, male, with gynecomastia","evidence":"PCS","frequency_raw":"15/18","hpo_id":"HP:0008730","is_excluded":false,"label":"Female external genitalia in individual with 46,XY karyotype","onset_id":"HP:0003577","reference":"PMID:10599740","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"33e34c65469b297079bf3df62d30046e9e748bd7a6dcbb6c736e06c89fd23abc","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008736","is_excluded":false,"label":"Hypoplasia of penis","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3c20ca7b7dec71f840e194690cf7d79d30741ab577252bda31ace553b3add176","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000062","is_excluded":false,"label":"Ambiguous genitalia","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4853fb73673bde46dbe791df229ad44320546b70c48e782c6edb4a3eebac774a","raw":{"aspect":"P","body_system":"breast","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000771","is_excluded":false,"label":"Gynecomastia","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6c6394fa4adfe5af3aa6103e19cebe96bfd1600b228fa44deabce83084adf115","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:264300","disease_name":"Pseudohermaphroditism, male, with gynecomastia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000789","is_excluded":false,"label":"Infertility","onset_id":null,"reference":"OMIM:264300","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7c1ff56a56f2c4b109ff54d25e331bff07e961145d4d69d1bd31cafc6da8cb4c","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000023","is_excluded":false,"label":"Inguinal hernia","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a2c038ccf6111e86399363ab52068d2575e219fb69e94ce865479818018cd1a4","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:264300","disease_name":"Pseudohermaphroditism, male, with gynecomastia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"OMIM:264300","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a98a141aeb3580e0db3b826a42d528fd78c34aa9e2a10afc683f78243876ab8e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000037","is_excluded":false,"label":"Male pseudohermaphroditism","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ab3ac2fb0ee7f250cdb86b29d206de2a3fc89939cead6807cf2faa1033be22a6","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:264300","disease_name":"Pseudohermaphroditism, male, with gynecomastia","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000037","is_excluded":false,"label":"Male pseudohermaphroditism","onset_id":null,"reference":"OMIM:264300","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b18dc570ccfee3869486fd3f71c4aacdfcab2d9a04e2cab67b4657c2a606a404","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100779","is_excluded":false,"label":"Urogenital sinus anomaly","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cbfdeb53199bb515cd2399c26fb45f65d836016b6e4717ec9669526cf89404af","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cf4b775753de8a6bb7c449c57a1294f0eb5494bc19e593513cfb20c05e04a12e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000048","is_excluded":false,"label":"Bifid scrotum","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ec3b0f9449c566bdc8060c8a433a6e870125a8a42bf4c35b0d8966176156c6c9","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008665","is_excluded":false,"label":"Clitoral hypertrophy","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ed8271b2d9bb8d9edba23cbe3583229a40f34ccc332b07fd57978fd299cdc2eb","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025380","is_excluded":false,"label":"Increased circulating androstenedione concentration","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"efb29bfc6f6aac137fc0b0ba486fcf5953ce899ee0dfe39c89219798497b91a4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ffc8dc870e721c8bfced6cd3e900792e8339cfa9e2d05b9827f6ce5416d09006","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:752","disease_name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000789","is_excluded":false,"label":"Infertility","onset_id":null,"reference":"ORPHA:752","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency\">17-beta hydroxysteroid dehydrogenase 3 deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a weaker precursor androgen called androstenedione.</p><p>Mutations in the HSD17B3 gene result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with little or no activity, reducing production of testosterone from androstenedione. The shortage of the stronger androgen affects the development of the reproductive tract in the male fetus, resulting in the abnormalities in the external sex organs that occur in 17-beta hydroxysteroid dehydrogenase 3 deficiency.</p><p>At puberty, conversion of androstenedione to testosterone increases in various tissues of the body through processes involving other enzymes. The additional testosterone results in the development of male secondary sex characteristics in adolescents, including those with 17-beta hydroxysteroid dehydrogenase 3 deficiency.</p><p>A portion of the androstenedione is also converted to the female sex hormone estrogen. Since impairment of the conversion to testosterone in this disorder results in excess androstenedione in the body, a corresponding excess of estrogen may be produced, leading to breast enlargement in some affected individuals.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes 17-beta hydroxysteroid dehydrogenase 3 deficiency?"},{"bodyHtml":"<p>Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female. In some cases, the external genitalia do not look clearly male or clearly female. Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis (hypospadias).</p><p>During puberty, people with this condition develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair. In addition to these changes typical of adolescent boys, some affected individuals may also experience breast enlargement (gynecomastia). Despite having testes, people with this disorder are generally unable to father children (infertile).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"17-beta-hydroxysteroid-dehydrogenase-3-deficiency","sourceDocuments":[{"name":"17-beta hydroxysteroid dehydrogenase 3 deficiency","reviewed":"2008-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:49.501364+00:00","label":"Causes","pageSha256":"a0e04c3ddb3e36f626bb47ae5f64fcac1fea537721b7eb6731dcf73e313df700","sourceUrl":"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"17-beta hydroxysteroid dehydrogenase 3 deficiency"},"schemaVersion":1}