Diagnosis of Soto's Syndrome
Soto's Syndrome Diagnosis: Book Excerpts
Diagnostic Tests for Soto's Syndrome: Online Medical Books
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for more information about diagnostis of Soto's Syndrome.
GIGANTISM:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Are there abnormal secondary sex characteristics? Patients with Klinefelter's syndrome, supermale, superfemale, sexual precocity, and virilism have abnormal secondary sex characteristics and a tall stature.
- Is there arachnodactyly? Arachnodactyly is associated with Marfan's syndrome and homocystinuria.
- Is there a family history? Patients with a family history of tall stature often have constitutional tall stature and not pituitary gigantism.
DIAGNOSTIC WORKUP
X-rays of the skull and a CT scan will help identify a pituitary eosinophilic adenoma, but serum growth hormone will also be elevated early, and FSH and LH may be depressed later. An MRI will be necessary to pick up microadenomas. Serum FSH and LH will be elevated in Klinefelter's syndrome. A chromosome study should be done to identify Klinefelter's syndrome, supermale, and superfemale. A serum testosterone, dihydrotestosterone, and dehydroepiandrosterone sulfate will be helpful in diagnosing sexual precocity and virilism caused by tumors and hyperplasia of the adrenal gland. Echocardiography and urinary hydroxyproline will help identify Marfan's syndrome, whereas a urine for homocystine will help diagnose homocystinuria. A thyroid profile should be done to rule out thyrotoxicosis.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
Umbilicus – Delayed Separation:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Vigorous use of antiseptics to clean the umbilical cord
–Probably the most common etiology
–Inhibits normal colonization of the
umbilicus, which otherwise would allow chemotactic infiltration of neutrophils to mediate cord separation
- Immunodeficiencies
–Leukocyte adhesion defects affecting chemotaxis (LAD I/II)
–LAD is usually associated with significant systemic (sepsis) or local (omphalitis) infection, recurrent infections, or failure to thrive
–Sialyl Lewis X antigen deficiency
–Neonatal alloimmune neutropenia
–Defective immune (gamma) interferon
-
Prematurity
–Gestational age less than 37 weeks
-
Birth via cesarean section
–Associated with delayed separation, possibly due to decreased bacterial colonization from delivery through a sterile surgical field, resulting in decreased infiltration of neutrophils, which is essential for cord separation
-
Neonatal sepsis
-
Urachal anomalies
–More likely to be seen in otherwise healthy infants without signs of local or systemic infection
-
Histiocytosis X
Workup and Diagnosis
- History
–Duration of umbilical cord attachment
–Risk factors for sepsis
–Recurrent or severe infections, especially without pus
formation or resistance to antibiotic therapy
–Cleaning techniques for cord care and use of water vs
antiseptics (e.g., alcohol, triple dye)
–Gestational age at birth
–Vaginal birth vs cesarean section
–Family history, consanguinity of parents
-
Physical exam
–Signs of generalized neonatal infection/sepsis
–Omphalitis or other signs of local umbilical infection
–Drainage from the umbilical stump (seen in urachal anomalies)
-
Labs
–Total and differential white blood cell counts (LADs
are characterized by leukocytosis)
–T and B cell subset determination
–Testing for leukocyte adhesion molecules; look for
abnormal expression of CD18, CD11a, b, and c molecules
–Functional tests for oxidative burst (zymosan-induced assay) - Studies
–Ultrasound, CT, or VCUG to search for urachal or genitourinary anomalies
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
GIGANTISM:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The approach to the diagnosis of these conditions is simple. RIA studies of the hormone levels are now readily available and x-rays of the skull with CT scans and tomography will allow a diagnosis. Referral to an endocrinologist may be wise from the start, especially because potentially tall girls may want endocrine therapy to close the epiphysis early.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Acromegaly and gigantism:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Plasma hGH and somatomedin-C levels measured by radioimmunoassay typically are elevated.Because hGH secretion is pulsatile, the results of random sampling may be misleading. The glucose suppression test offers more reliable information. Glucose normally suppresses hGH secretion; therefore, a glucose infusion that doesn’t suppress the hormone level to below the accepted normal value of 5 ng/ml, when combined with characteristic clinical features, strongly suggests hyperpituitarism. The level of insulin-like growth factor 1 is high.
In addition, skull X-rays, computed tomography scan, arteriography, and magnetic resonance imaging determine the presence and extent of the pituitary lesion. Bone X-rays showing a thickening of the cranium (especially of frontal, occipital, and parietal bones) and of the long bones, as well as osteoarthritis in the spine, support this diagnosis.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Acromegaly and gigantism:
Diagnosis
(Handbook of Diseases)
Serum HGH levels measured by radioimmunoassay typically are elevated. However, because HGH secretion is pulsatile, the results of random sampling may be misleading. IGF-1 (somatomedin-C) levels offer a better screening alternative.
The glucose suppression test offers more reliable information. Glucose normally suppresses HGH secretion; therefore, a glucose infusion that doesn’t suppress the hormone level to below the accepted normal value of 2 ng/ml, when combined with characteristic signs and symptoms, strongly suggests hyperpituitarism.
In addition, skull X-rays, a computed tomography scan, arteriography, and magnetic resonance imaging determine the presence and extent of the pituitary lesion. Bone X-rays showing a thickening of the cranium (especially of frontal, occipital, and parietal bones) and of the long bones as well as osteoarthritis in the spine support this diagnosis.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
GIGANTISM:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The approach to the diagnosis of these conditions is simple.
Radioimmunoassay (RIA) studies of hormone levels are now readily available, and
x-rays of the skull with CT scans and tomography will allow a diagnosis.
Referral to an endocrinologist may be wise from the start, especially
because potentially tall girls may want endocrine therapy to close the
epiphysis early.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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