| Entry |
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| Name |
Familial male-limited precocious puberty;
Familial testotoxicosis;
Gonadotropin-independent familial sexual precocity |
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| Supergrp |
Precocious puberty [DS: H00937] |
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| Description |
Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.
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| Category |
Endocrine disease
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| Brite |
Human diseases [BR:br08402]
Endocrine and metabolic diseases
Gonadal diseases
H02019 Familial male-limited precocious puberty
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the gonadal hormone system
5A81 Testicular dysfunction or testosterone-related disorders
H02019 Familial male-limited precocious puberty
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| Pathway |
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| Network |
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| Element |
| N00886 | Mutation-activated LHCGR to LHCGR-GNAS-PKA signaling pathway |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB Jr |
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| Title |
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. |
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| Journal |
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| Reference |
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| Authors |
Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A |
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| Title |
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. |
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| Journal |
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| LinkDB |
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