Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation
J Clin Res Pediatr Endocrinol
; 11(4): 444-448, 2019 11 22.
Article
en En
| MEDLINE
| ID: mdl-30905142
ABSTRACT
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or the action of GnRH on the pituitary gonadotrophes. KISS1R is one of the genes which, when mutated, cause IHH and mutations of this gene are responsible for about 2-5% of patients with normosmic IHH (NIHH). In this report, we present three siblings with NIHH due to a compound heterozygous KISS1R mutation. Genetic studies were carried out in the 14 year old index case with IHH and three siblings, two of whom were prepubertal. Genomic DNA was extracted from peripheral leukocytes and KISS1R gene was sequenced by using standard polymerase chain reaction amplification procedures. In molecular analysis of the index case, a compound heterozygous mutation was determined in KISS1R gene c.969C>A (p.Y323X) (known pathogenic) and c.170T>C (p.L57P) (novel). Mutation c.170T>C (p.L57P) was inherited from the mother while c.969C>A (p.Y323X) was inherited from the father. The same genotype was also found in two of the three siblings. A compound heterozygous mutation of the KISS1 gene, including one novel mutation, was found to cause NIHH and also incomplete puberty in a non-consanguineous family.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pubertad Tardía
/
Desarrollo Infantil
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Pubertad
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Desarrollo del Adolescente
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Receptores de Kisspeptina-1
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Mutación con Pérdida de Función
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Hipogonadismo
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Child
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Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Res Pediatr Endocrinol
Año:
2019
Tipo del documento:
Article
País de afiliación:
Turquía