Variable Associations of Klinefelter Syndrome in Children
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Inas Mazen
ABSTRACT
Background: KF is characterized by heterogeneity in the degree of expressed phenotypes.
Objective: to ascertain the variable phenotypes of Klinefelter syndrome in children. Subjects and Methods: We present eight klinefelter patients, their age ranged from 2 to 11 years (mean 6.63). Subjects were meticulously examined for evidence of dysmorphology. Intelligence quotient was estimated.
Results: Cytogenetic analysis revealed 47,XXY karyotype in all patients. The following was detected: Dysmorphism in 5/8, micropenis in 4/8, the left testis was nonpalpable in 4/8, short stature in 4/8, congenital cardiac malformations in 4/8, seizures in 4/8, mental retardation in 5/8, growth hormone deficiency in 2/8, hypothyroidism and delayed bone age in 1/8.
Conclusion: Our study demonstrated a variable association of mental retardation, dysmorphism, micropenis, undescended testis, seizures, congenital heart defects, and growth hormone deficiency among Egyptian patients with Klinefelter syndrome. This merits further study to facilitate earlier diagnosis and better management to improve their quality of life.
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Artikel in diesem Heft
- A Warning Sign from the Thyroid
- Variable Associations of Klinefelter Syndrome in Children
- Diabetes Insipidus in a Young Child
- Evaluation and Follow-up of Clinically Euthyroid Children with Normal Free T4 and Suppressed TSH
- Bicalutamide plus Anastrozole for the Treatment of Gonadotropin-Independent Precocious Puberty in Boys with Testotoxicosis: A Phase II, Open-Label Pilot Study (BATT)
- Endocannabinoid (EC) Receptor, CB1, and EC Enzymes' Expression in Primary Adipocyte Cultures of Lean and Obese Pre-pubertal Children in Relation to Adiponectin and Insulin
- The Relationship of Insulin Secretion and GAD65 Antibody Levels at Diagnosis on Glycemic Control in Type 2 Diabetes
- Morning Cortisol is Not Associated with Truncal Fatness or Resting Blood Pressure in Children: Cross-Sectional and 1-2 Year Follow-Up Analyses
- Decreased Plasma Apelin Levels in Pubertal Obese Children
- Adolescent Acromegaly: Clinical Parameters and Treatment Outcome
- Left Ventricular Diastolic Dysfunction in Adolescents with Type 1 Diabetes Reflects the Long- but Not Short- Term Metabolic Control
- Effects of a Structured Exercise Program on Insulin Resistance, Inflammatory Markers and Physical Fitness in Obese Korean Children
- Case Series of Neonatal Hypocalcemia due to Pseudohypoparathyroidism
- A Case of Antenatal Bartter Syndrome with Sensorineural Deafness
- Association of SUMO4 M55V Polymorphism with Type 1 Diabetes in Chinese Children
- Mayer-Rokintansky-Kuster-Hauser Syndrome Associated with Atrial Septal Defect, Partial Anomalous Pulmonary Venous Connection and Unilateral Kidney – An Unusual Triad of Anomalies
