A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia
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چکیده
منابع مشابه
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia
BACKGROUND We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no brea...
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Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (~10-15%) t...
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Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of certain autosomes, including chromosome 10. This study aimed to: (1) elucidate the aetiopathogenesis of the disease in the studied case: (2) diagno...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2017
ISSN: 1687-9856
DOI: 10.1186/s13633-017-0052-z