Hormonal profile among children with short stature

Linear growth occurs in 3 phases. During fetal and early infant life, growth is largely regulated by nutrition, during childhood by growth hormone [GH] and during puberty by GH and sex steroids. Short stature may be the normal expression of genetic potential, in which case the growth rate is normal at least at the 25[th] percentile, or it may be the result of a condition causing growth failure with a growth rate below the appropriate growth velocity for age. Short stature has been shown to have far reaching effects on psychological well being including poor academic achievement, behavioral problems, morbidity related to the underlying cause and increased risk for reduced bone mass. One hundred fifty-nine patients divided into 4 groups were studied. Group 1 [Pituitary dwarf] consisted of 26 patients [16 males and 10 females] aged 4-12 years. Group II [Congenital hypothyroidism] included 23 patients [14 males and 9 females] aged 2-12 years. Group III [Down's syndrome] consisted of 10 patients [5 males and 5 females] aged 3-12 years. A hundred apparently healthy children [50 males and 50 females] aged 2.5-12 years were considered as [Control group] group IV. All children were examined thoroughly, anthropometric measurements [14 items] were evaluated according to percentiles and Z-score diagrams. Bone age was determined by plain X-ray left wrist. Hormonal study was done including T[3], T[4], TSH, overnight urinary growth hormone [GH] and creatinine. Serum growth hormone [insulin-induced hypoglycemia test] and insulin like growth factor-1 [IGF-1] were measured for the pituitary dwarf group. The height, sitting height and arm span measurements showed a marked decrease below normal mean Z-scor e [more than -2SD] in the three studied groups of patients. Hormonal profile: There was a significant decrease in serum levels of both T[3] and T[4] in congenital hypothyroidism and insignificant change in the other two groups. 3 patients from Down's syndrome group reached a hypothyroidal level of T[3], T[4], and TSH. Generally urinary growth hormone showed a significant decrease in the three studied groups of patients. Pituitary dwarf group showed a significant decrease in both serum and urinary growth hormones and also serum IGF-1 with a positive correlation between serum growth hormone and both urinary growth hormone and serum IGF-1. Height, sitting height and arm span are simple and accurate measurements for early detection and follow up of the short child. Assessment of the thyroid hormonal profile is essential as early as possible in all children with short stature with and without clinical stigmata of hypothyroidism. Determination of urinary growth hormone is as accurate as serum GH, moreover it is easier. Measurement of serum IGF-1 is an important era in diagnosis of short stature

Genetic profile among children with short stature

Human growth starts at conception and proceeds through various identifiable developmental stages. The process of growth depends on both genetic and environmental factors that combine to determine an individual's eventual height. Many genes have been identified and their mutations have been shown to be responsible for abnormal growth in humans and animals. Dermatoglyphics can be used to study the participation of genetic factors in diseases while cytogenetic evaluation can be used to detect and study the responsible chromosomes and genes. Fifty-nine short stature patients were included in this study allocated into four groups. Group 1 [Pituitary dwarf] consisted of 26 patients [16 males and 10 females], aged 4-12 years. Group II [Congenital hypothyroidism], included 23 patients [14 males and 9 females], aged 2-12 years. Group III [Down's syndrome] involved 10 patients [5 males and 5 females], aged 3-12 years. A hundred clinically healthy children [50 males and 50 females] of matched age, sex and socioeconomic status represented group IV [control group] aged 2.5-12 years. All patients and control children were subjected to detailed history, family pedigree, thorough clinical examination, anthropometric measurements [14 items, plotted into percentile curves and z-scores], bone age determination by plain x-ray left wrist, IQ assessment using Stanford Binnet test, and chromosomal studies including dermatoglyphics by Ink method, karyotyping and Sister Chromatid Exchange [SCE] by Hockest Giemsa method. Consanguinity was positive in about 50% in groups I and III and about 80% in group II. Patients showed significantly low z-scores for height [mean = -3.67, -3.52, -3.31], sitting height [mean = -3.09, -2.59, -2.06] and arm span [mean = -3.28, -2.45, -2.34] for groups I, II and III respectively. Dermatoglyphic study: the finger tip pattern in groups I and II showed a high frequency of radial loops, on the other hand there was a high frequency of ulnar loops in group III. The total ridge count [TRC] was significantly decreased more in group III than group II and insignificantly different in group I when compare to control children, Similarly [atd] angle was significantly increaed [both hands] in groups II and III, while it was insignificantly different in group I in comparison to control children. Total [a-b] ridge count was slower among patients of groups II and III when compared to control but it was significantly higher among patients of group I. The thenar and hypothenar study showed an increase in the pattern in groups I, II and III comparable to control. Interestingly a significant hypothenar whorl pattern in left hand was found in two families of group I. As regards the chromosomal study, both groups I and III showed high frequency of SCE. Also, there was an increase in structural aberrations in both groups [more in group III than group I]. High frequency of consanguinity may be an explanation. On the other hand, the two families showing the special hypothenar whorl pattern also had high frequency SCE. Dermatoglyphic data in this study [Increase in the pattern in thenar and hypothenar areas and increase in [atd] angle and decrease [TRC] could be considered as a diagnostic tool in the assessment of the short child. So, it is recommended to conduct a well-designed nation-wide study of dermatoglyphic, chromosomal and genetic findings for the short child and his family to find out the genetic basis of short stature among Egyptian children