Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation
| Autor: | Nadège Servant, Charles Sultan, A. Daussac, P. Barat, F Lavran, Françoise Paris, M. Yacoub, Laura Gaspari, S. Missonier |
|---|---|
| Přispěvatelé: | CHU Bordeaux [Bordeaux], Centre d'Investigation Clinique (CIC 0005), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Hôpital Lapeyronie [Montpellier] (CHU) |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty endocrine system Somatic cell Testotoxicosis 030209 endocrinology & metabolism Biology [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics medicine.disease_cause Lesion 03 medical and health sciences 0302 clinical medicine Endocrinology Precocious puberty Internal medicine MESH: Child medicine LH receptor MESH: Receptors LH MESH: Puberty Precocious Mutation [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics MESH: Humans luteinizing hormone/choriogonadotropin receptor General Medicine Hyperplasia [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism medicine.disease MESH: Male 3. Good health 030104 developmental biology Hormone receptor medicine.symptom Hormone MESH: Ultrasonography |
| Zdroj: | Endocrine Research Endocrine Research, Taylor & Francis, 2020, 45 (1), pp.32-40. ⟨10.1080/07435800.2019.1645163⟩ |
| ISSN: | 0743-5800 1532-4206 |
| DOI: | 10.1080/07435800.2019.1645163⟩ |
| Popis: | International audience; Purpose: Testotoxicosis is an autosomal dominant form of limited gonadotropin-independent precocious puberty in boys. It is caused by a heterozygous constitutively activating mutation of the LHCGR gene encoding the luteinizing/hormone receptor (LHR). Some twenty mutations of the LHCGR gene have been reported. Most of them are constitutive mutations isolated from blood leukocyte DNA, although others are somatic, found only in testicular tumoural tissue. In all the previously reported cases of these somatic mutations, the tumour, whether a nodular Leydig cell adenoma or hyperplasia, was easily visible on testicular ultrasonography. The aim of this study was to describe an unusual presentation of a patient with the clinical and hormonal characteristics of testotoxicosis but no well-circumscribed lesion at testicular ultrasonography.Materials and Methods: Molecular analysis of the LHCGR gene was performed by direct sequencing of DNA extracted from peripheral leucocytes and testicular biopsy.Results: Molecular analysis didn't find any LHR mutation in blood, whereas it revealed for the first time a somatic D578H mutation in testicular tissue despite no evidence of a nodular aspect at testis ultrasonography.Conclusions: This observation underlines the need to look for a somatic LHCGR gene mutation from the testicular biopsies of all boys with testotoxicosis with no constitutive LHCGR gene mutation identified from blood DNA, even in the absence of circumscribed testicular lesion at ultrasonography. In addition, based on the known link between LHR mutations and testicular tumourigenesis, yearly ultrasound monitoring of the testes should be considered for these patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|