X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3–Xp11 in a Chinese family
نویسندگان
چکیده
منابع مشابه
A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family
BACKGROUND The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. METHODS A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomograph...
متن کاملMultiple pituitary hormone deficiency: beware of combined hormones deficiency
Multiple Pituitary Hormone Deficiency (MPHD) is an endocrine disorder due to combination of pituitary hormones deficiencies. Clinical manifestations vary due to the combination of individual hormone deficiencies. The diagnosis is established based on history, signs and symptoms, hormonal and radiological examination. MPHD should be managed by hormones replacement according hormone abnormalities...
متن کاملA recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.
BACKGROUND/AIMS Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD) who harbor a novel mutation in LHX3. METHODS Two female siblings from related parents were examined. Both patients had neonatal complication...
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Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female pa...
متن کاملA new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level. In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1, McKusick 304700. No associated sympto...
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ژورنال
عنوان ژورنال: Genomics
سال: 2011
ISSN: 0888-7543
DOI: 10.1016/j.ygeno.2011.09.002