Short stature

Turner s Syndrome. Turner s syndrome is a genetic disorder of females characterized by short stature, nonfunctioning ovaries, and failure to develop secondary sexual characteristics. Several clinical trials in the United States, Europe, and Japan have demonstrated that hGH can accelerate... 

Clinical features include neonatal hypotonia, a tendency toward congenital hip dislocation and diffuse muscle weakness. Later on children are frequently of short stature and low body weight and often have long thin faces and high-arched palates. Respiratory difficulties, where present, occur early on and tend to improve with time. In others a virtually static clinical picture is seen. 

Fibrobiasts, ieukocytes, tissues, amniotic fiuid ceiis, or serum can be used for the assay of many of the above enzymes. Patients with these disorders exhibit a variety of ciinicai findings that may inciude cioudy corneas, mentai retardation, stiff joints, cardiac ab-normaiities, hepatospienomegaiy, and short stature, depending on the specific disease and its severity. 

Children with GH-deficient or GH-insufficient short stature also may present with abdominal obesity, prominence of the forehead, and immaturity of the face. 

In leukemia, the intensified use of methotrexate and glucocorticoids is responsible for causing an increased frequency of neurotoxicity and, in older children and adults, avascular necrosis of bone. High cumulative doses of anthracyclines can cause cardiomyopathy. Cranial irradiation causes neuropsychologic deficits and endocrine abnormalities that lead to obesity, short stature, precocious puberty, and osteoporosis.3 As newer and more intensive treatments enter clinical trials, close observation for long-term side effects will assume even greater importance.24... 

Genotropin Somatropin Pharmacia Upjohn Short stature in children due to growth hormone deficiency... 

GH has a potentially wide range of therapeutic uses (Table 11.6). To date, however, its major application has been for the treatment of short stature. hGH extracted from human pituitary glands was first used to treat pituitary dwarfism (i.e. caused by suboptimal pituitary GH secretion) in 1958. It has subsequently proven effective in the treatment of short stature caused by a variety of other conditions, including ... 

IV Mild-to-moderate bone deformity and variable short stature hearing loss occurs in some families ... 

I von Gierke Glucose-6-phosphatase Severe hypoglycemia, lactic acidosis, hepatomegaly, hyperlipidemia, hyperuricemia, short stature Normal... 

In 1963 J.H. Rubinstein and H. Taybi reported a rare human disease that induced mental retardation, an increased risk of neoplasia and physical abnormalities, including broad thumbs, big and broad toes, short stature and craniofacial anomalies. The molecular basis of the Rubinstein-Taybi syndrome (RTS) was later discovered to be a disruption of one copy of the human CREB binding protein (CBP or CREB-BP) gene that encodes the histone acetyltransferase CBP [3]. In addition to CBP, all mammals have a closely related acetyltransferase, p300. Retrospectively, RTS was the first disease found to be due to a defective acetylation process [1-3]. 

There is no information on in utero developmental effects in humans exposed to HCB, but oral exposure of young children has caused small or atrophied hands, short stature, pinched facies, osteoporosis of the carpal, metacarpal, and phalangeal bones, and painless arthritic changes. HCB has been demonstrated to cross the placenta in humans and in rodents. HCB residues have been detected in human milk and adipose tissue and in the blood of the umbilical cord of newborn infants and their mothers. Teratogenic effects were not... 

Other symptoms of 01 include blue sclerae, bone deformities, short stature (types III and IV only), and hearing loss. 

In ML-III patients, stiffness of the hands and shoulders due to rheumatoid arthritis leads to claw-hand deformities in addition to short stature and scoliosis. 

Clinical manifestations may occur in virtually every organ system, with widely variable progression often involving short stature, skeletal deformities, intestinal abnormalities, spasticity, joint stiffness,... 

The answer is D. As this patient ages, a variety of skeletal defects and short stature that are consistent with a lysosomal storage disease (mucolipidosis), either I-cell disease or pseudo-Hurler polydystrophy, are developing. Both diseases arise from a deficiency of an enzyme involved in synthesis of the Man-6-P marker on lysosomal enzymes. Such misaddressed proteins are secreted rather than trafficked to the lysosomes. The degradative function of lysosomes is impaired as a result and the organelles tend to accumulate waste products (hence, the term storage disease ). It is these inclusion bodies or dense structures that would be visible by microscopic examination of the patient s cells in a biopsy specimen. 

Patients with Prader-Willi syndrome exhibit failure to thrive and short stature initially, which converts to a tendency toward excessive eating, obesity, mild-to-moderate mental retardation, hypogonadism, and characteristic facial dysmorphology. 

Turner s syndrome is a genetic defect that affects females (sufferers carry only one of the usual two X chromosomes). These individuals are infertile, often show developmental defects, mental retardation and short stature. Virtually all clinical trials involving Turner s syndrome patients confirm that administration of GH significantly increases growth velocity, indicating its therapeutic usefulness in these cases. 

The range of potential applications of rhGH in clinical medicine continues to grow. The use of GH is also facilitated by the absence of any serious side effects in most instances. Although its efficacy in promoting growth in persons of short stature is beyond doubt, more convincing clinical evidence is required before its approved clinical applications are expanded further. 

IV.a.1.8. Growth retardation. In children this may cause permanent short stature. It is a common problem with systemic steroid administration, but has also been observed in children taking high doses of topical steroids. 

The clinical symptoms of mitochondrial diseases are highly varied and include seizures, vomiting, deafness, dementia, stroke-like episodes, and short stature. Although there are many types of mitochondrial disorders, four of the most common types are as follows Kearns-Sayre syndrome, Leber s hereditary optic atrophy, MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) and MERRE (myoclonic epilepsy with ragged red fibres). 

F. Role in therapy Micromedex notes that like somatropin (rDNA origin), somatrem is effective in the treatment of children with documented defidenq of growth hormone its effectiveness in constitutional short stature remains to be determined. Somatrem can be considered to be equal to somatropin in efficaq , but because of the increased incidence of immunogenic effects resulting in neutralizing antigrowth hormone antibodies seen with somatrem, it will likely take a secondary role to recombinant somatropin products in therapy. 

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