Disgenesia gonadal pura 46 XX, una causa infrecuente de hipogonadismo: presentación de un caso
MartÃnez Montenegro, Irasel; Borges Alonso, Claudia.
Rev. chil. endocrinol. diabetes
; 13(1): 11-13, 2020.
Artigo em Espanhol | LILACS | ID: biblio-1048794
Documentos relacionados
Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature.
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey.
Where have you been all my life?: A laparotomy in infancy indicated the patient had no uterus or ovaries in her peritoneal cavity.
Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report.
[Inappropriate sexual differentiation of sex reversal type in 16-year-old boy with male phenotype].
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
[Primary amenorrhea: constitutional delayed puberty or hormonal disturbance].
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.