Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males
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چکیده
منابع مشابه
Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal males.
Two half-brothers with short stature secondary to growth hormone deficiency and a family history implicating X-linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH and TSH release were normal. LH and FSH responses during an i.v. GnRH test were severely blunted. H...
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Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
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Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary re...
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BACKGROUND Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked cr...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2008
ISSN: 0009-9163,1399-0004
DOI: 10.1111/j.1399-0004.1977.tb01309.x