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puberty","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001061","is_excluded":false,"label":"Acne","onset_id":null,"reference":"ORPHA:3000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fb35a1456c4389f46445d83f757df9d0adb8060af45142599817aa946abaf9a9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3000","disease_name":"Familial peripheral male-limited precocious puberty","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:3000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty\">Familial male-limited precocious puberty</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.</p><p>The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovaries (ovulation); chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue.</p><p>Certain LHCGR gene mutations result in a receptor protein that is constantly turned on (constitutively activated), even when not attached (bound) to luteinizing hormone or chorionic gonadotropin. In males, the overactive receptor causes excess production of testosterone, which triggers male sexual development and lead to early puberty in affected individuals. The overactive receptor has no apparent effect on females.</p><p>Approximately 18 percent of individuals with familial male-limited precocious puberty have no identified LHCGR gene mutation. In these individuals, the cause of the disorder is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Familial male-limited precocious puberty?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"familial-male-limited-precocious-puberty","sourceDocuments":[{"name":"Familial male-limited precocious puberty","reviewed":"2012-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:26.304116+00:00","label":"Causes","pageSha256":"f896353c2300464440101e9585ab02ef95182e564732dddbb7710f55bdc8ee97","sourceUrl":"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty"}],"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":"Familial male-limited precocious puberty"},"schemaVersion":1}