Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.
Gynecol Endocrinol
; 32(1): 14-7, 2016.
Article
em En
| MEDLINE
| ID: mdl-26572316
ABSTRACT
We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Útero
/
Receptores LHRH
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Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
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Amenorreia
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Hipogonadismo
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Infertilidade Feminina
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Gynecol Endocrinol
Assunto da revista:
ENDOCRINOLOGIA
/
GINECOLOGIA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Itália