Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients with hypothalamic hamartoma were examined by CT and/or MR imaging, immunohistochemistry and electron microscopy. The hamartomas arose from the hypothalamus and extended inferiorly. LH-RH neurons were detected in three cases by immunohistochemistry. Electron microscopy revealed large myelinated axons, axon terminals containing dense-core vesicles and axon terminals with clear vesicles forming asymmetrical synapses. The development of hypothalamic hamartoma and its functional manifestations (precocious puberty and laugh attacks) are discussed in reference to the migration of LH-RH neurons from the olfactory placode.
 ...
PMID:Hypothalamic hamartoma: anatomic, immunohistochemical and ultrastructural features. 779 29

Breast masses are uncommon in the first two decades of life. 17 girls aged between 2 and 15 years who presented over a 5-year period are reviewed retrospectively. The cases comprised inflammation (11), asymmetrical gynaecomastia (1), precocious puberty (1), giant juvenile fibroadenoma (1), primary rhabdomyosarcoma (1), lymphoma (1), and metastatic neuroblastoma (1). Ultrasound was useful in all cases in identifying the abnormality and guiding any further investigation.
 ...
PMID:Breast masses in childhood and adolescence. A presentation of 17 cases and a review of the literature. 807 27

While a germline activating mutation of the luteinizing hormone receptor (LHR) gene is known to cause autonomous production of testosterone from testicular Leydig cells in male-limited precocious puberty, only a few studies have addressed the role of somatic LHR mutation in testicular pathology. The authors report a case of a 6-year-old boy who developed secondary sex characteristics including facial acne, enlarging genitalia, and aggressive behavior, for which serial biochemical evaluation confirmed the status of peripheral precocious puberty. Examination revealed asymmetrical testicular volume, following which a left testicular tumor was detected through ultrasonography. A left orchiectomy was performed, and histopathology revealed a well-circumscribed Leydig cell tumor Molecular study of the exon 11 of the LHR gene revealed a missense mutation at the nucleotide position 1,732, leading to a substitution of histidine for aspartic acid at codon 578. Interestingly, the substitution was consistent with all previously reported LHR alteration in pediatric Leydig cell adenoma, but which had never before been reported in male-limited precocious puberty, suggesting that the mutation is a molecular signature of the adenoma.
 ...
PMID:Peripheral precocious puberty in a male caused by Leydig cell adenoma harboring a somatic mutation of the LHR gene: report of a case. 2087 84