SEX-LINKED OR AUTOSOMAL DOMINANT TRANSMISSION OF PITUITARY STALK INTERRUPTION SYNDROME. † 580
نویسندگان
چکیده
منابع مشابه
Frontometaphyseal dysplasia: autosomal dominant or X-linked?
The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabu...
متن کاملGrowth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome
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...
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We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
متن کاملDiagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency
BACKGROUND Most patients with childhood non-organic growth hormone (GH) deficiency (GHD) produce a normal GH peak as young adults. Our objectives were to better define this transient GHD and evaluate the factors influencing the growth response of patients with pituitary stalk interruption syndrome (PSIS). METHODS We studied 72 prepubertal patients with a GH peak < 6.7 ng/ml after 2 stimulatio...
متن کاملDelayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency
Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patien...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1996
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199604001-00601