Predicting Puberty in Partial Androgen Insensitivity Syndrome: Use of Clinical and Functional Androgen Receptor Indices

Autor:	I A Hughes, Philippa Prentice, Trevor Bunch, Ngee Lek, Nigel P. Mongan, Jonathan B Whitchurch, Veronika M. Metzler, Karolina Zielińska, Harriet L Miles, David M. Heery, Rieko Tadokoro-Cuccaro, Bismoy Mazumder
Přispěvatelé:	Whitchurch, Jonathan B [0000-0002-1465-9311], Mongan, Nigel P [0000-0001-5438-1126], Heery, David M [0000-0002-5035-2392], Apollo - University of Cambridge Repository
Rok vydání:	2018
Předmět:	0301 basic medicine Oncology Male Pediatrics Research paper Sex assignment medicine.medical_treatment Gene Expression Gynaecomastia in silico modelling 0302 clinical medicine LBD ligand-binding domain DSD disorder of sex development PAIS partial androgen insensitivity syndrome EMS external masculinisation score Young adult 050207 economics 050208 finance 05 social sciences Androgen insensitivity General Medicine Androgen-Insensitivity Syndrome Pubic hair 3. Good health Androgen receptor medicine.anatomical_structure Receptors Androgen Research centre Dihydrotestosterone Androgen insensitivity syndrome Reporter assays Mastectomy medicine.drug Adult medicine.medical_specialty Adolescent Genotype DHT dihydrotestosterone medicine.drug_class General Biochemistry Genetics and Molecular Biology Cell Line 03 medical and health sciences Young Adult NID nuclear receptor interaction domain 030225 pediatrics Internal medicine 0502 economics and business medicine Animals Humans Allele Partial androgen insensitivity syndrome Alleles Puberty outcome External masculinisation score Research ethics business.industry Puberty medicine.disease Androgen WT wild-type 030104 developmental biology SDS standard deviation score DBD DNA-binding domain Mutation AR androgen receptor business Biomarkers
Zdroj:	EBioMedicine
ISSN:	1556-5068 2352-3964
DOI:	10.2139/ssrn.3228238
Popis:	Background: PAIS exhibits a complex spectrum of phenotypes and pubertal outcomes. The paucity of reliable prognostic indicators can confound management decisions including sex-of rearing. We assessed whether external masculinisation score (EMS) at birth or functional assays correlates with pubertal outcome in PAIS patients and whether the EMS is helpful in sex assignment. Methods: We collected pubertal outcome for 27 male-assigned PAIS patients, all with confirmed androgen receptor (AR) mutations, including two previously uncharacterized variants (I899F; Y916C). Patients were grouped as follows; EMS at birth
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eff04599ed1218a15cf9b5a35e4c63d https://doi.org/10.2139/ssrn.3228238 Zobrazit plný text záznamu