Prader-Willi-like syndrome

Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.

Decreased response to growth hormone stimuation test

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.


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(per page)
PMID (PMCID)
30323850
(6176277)
 OTHER
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.
D Hidalgo-Santos A, Del Carmen DeMingo-Alemany M, Moreno-Macian F, Rosello M, Orellana C, Martinez F, Caro-Llopis A, Leon-Carinena S, Tomas-Vila M.
Int J Endocrinol Metab. 2018;16(3):e67329.
The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia.