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Biomedical subjects

Ab Sadeghi-Nejad

Publications and source records attributed to Ab Sadeghi-Nejad.

6 recordsLinked to original sources
PubMed2005

A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature.

We report a young man with intrauterine macrosomia, macrocephaly, and bony abnormalities. Excessive growth continued throughout infancy and childhood. Bone age was advanced. He developed contractures of the large joints and was confined to a wheelchair. Extensive laboratory studies, repeated on multiple occasions were all normal. Intellectually, he was normal. His near final height was 234 cm. The constellation of findings in this patient is at variance with previously described syndromes of tall stature. We postulate that excessive size and bone overgrowth in this young man is caused by a receptor/post-receptor abnormality involving a growth on/off mechanism at the cellular level.

Abnormalities, Multiple↗
PubMed2005

Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.

Neurofibromatosis type 1 and tuberous sclerosis are the two most common neurocutaneous disorders in humans. Both are transmitted as autosomal dominant conditions with a high rate of new mutations and similar clinical features. However, the two disorders have distinct and well-delineated genetic, biochemical, and physical findings. Simultaneous occurrence of these two conditions is rare. We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual.

Child, Preschool↗
PubMed2004

Cortisol and estradiol secretion by a benign virilizing adrenocortical tumor in a prepubertal girl.

We report a 5.5 year-old girl with a benign adrenocortical adenoma who presented with virilization and rapid growth. She did not have any clinical features of isosexual precocity or, except for hypertension, Cushing's syndrome. Measurement of hormones in adrenal vein blood obtained at surgery showed high concentrations of testosterone, cortisol, estradiol and intermediary substrates. Elevated levels of hormones detected in the peripheral blood were released directly from the tumor and were not the result of peripheral interconversion. Hyperandrogenism can obscure the clinical features of Cushing's syndrome and estrogen hypersecretion in patients with functional adrenal tumors.

Acne Vulgaris↗
PubMed2003

Endocrine gland abnormalities in thalassemia major: a brief review.

Thalassemia major (beta-thalassemia) affects a significant segment of the population in certain areas of the world. Alterations in migration patterns have changed the geographic distribution of this disease and made it a worldwide health problem. Over the course of the past 2-3 decades hypertransfusion therapy has significantly increased the life expectancy, and improved the quality of life of these patients. At the same time there has been an increase in the frequency of complications of this therapy caused by iron overload. Endocrine gland abnormalities contributed little to the morbidity or mortality of beta-thalassemia in the past. As a result of hypertransfusion therapy and increased longevity, however, endocrinopathies have become more common and contribute significantly to morbidity in these patients. In this article we briefly review the current understanding of endocrine gland abnormalities, primarily caused by iron overload, in patients with thalassemia major.

Adrenal Insufficiency↗