Short stature in children is a multifaceted issue with various potential etiologies, ranging from endocrine disorders to chronic illnesses and genetic conditions. Among these, familial short stature (FSS) stands out as a primary non-pathological cause. FSS is typically defined as a condition where the child’s height is below the third percentile for age and sex, consistent with the familial growth pattern [1]. Unlike other causes of short stature that might require medical intervention, children with FSS usually follow a normal growth velocity and have normal developmental milestones, albeit at a lower percentile on growth charts. Identifying FSS is crucial for several reasons [2].

Firstly, it helps differentiate between pathological and non-pathological causes of short stature. This differentiation is essential because pathological causes often require specific treatments, whereas FSS does not. Secondly, understanding the frequency and characteristics of FSS can help in genetic counselling and managing parental expectations [3]. Parents of children with FSS might be concerned about their child's growth, and knowing that the short stature is inherited and non-pathological can provide reassurance [4].

Several studies have explored the prevalence of FSS in different populations. However, there is still a need for comprehensive data across various ethnic and demographic groups. This study aims to fill that gap by examining the frequency of FSS in children presenting with short stature in a diverse population [5]. By doing so, we hope to provide a clearer picture of how common FSS is and how it correlates with various demographic factors such as age, sex, and socioeconomic status. To diagnose FSS, a thorough clinical evaluation is essential. This evaluation includes a detailed family history to identify patterns of short stature in parents and siblings [6]. Growth charts are used to plot the child's height and compare it with standardized percentiles. Additionally, bone age assessment through X-rays can help determine if the child's skeletal development is consistent with their chronological age. In children with FSS, bone age is typically not delayed, contrasting with other conditions such as growth hormone deficiency or hypothyroidism, where bone age might be significantly delayed [7].

Genetic factors play a crucial role in determining a child’s height. Research has identified several genes associated with growth and development, many of which might contribute to FSS. These genetic factors can influence the growth plates in bones, hormone regulation, and overall growth patterns [8]. Understanding these genetic influences can help in predicting growth outcomes and providing appropriate guidance to families. Another important aspect to consider is the psychological impact of short stature on children. While FSS is a non-pathological condition, children with short stature might experience social and psychological challenges. They might face teasing or bullying from peers, which can affect their self-esteem and confidence [9]. It is important for healthcare providers to address these issues and provide support to both the child and their family. Counselling and support groups can be beneficial in helping children cope with the social aspects of short stature. In terms of management, children with FSS generally do not require medical intervention for their height. However, regular monitoring of growth and development is important to ensure that there are no underlying conditions that might affect their overall health [10]. Nutritional counselling might also be beneficial, as proper nutrition plays a crucial role in growth and development. While growth hormone therapy is not indicated for FSS, ensuring that the child has a balanced diet and sufficient physical activity is important for their overall well-being [11].

Objective

This study aims to determine the frequency of familial short stature in children presenting with short stature.

This cross-sectional study was conducted at Services Hospital, Lahore during 2022 to 2023. Data were collected from 500 participants.  Data were collected on demographic information, clinical history, and growth patterns for each participant. The demographic data included age, sex, and socioeconomic status. Clinical history encompassed birth history, growth milestones, and any previous medical evaluations related to growth.

Parental Heights and Target Height Calculation

Parental heights were obtained through direct measurement or reliable self-reporting. The mid-parental height (MPH) was calculated using the following formulas:

• For boys: [(Father’s height + Mother’s height) / 2] + 6.5 cm
• For girls: [(Father’s height + Mother’s height) / 2] - 6.5 cm

The target height range for each child was determined based on the MPH ± 8.5 cm. Familial short stature was diagnosed if the child's height was consistent with the target height range based on parental heights and there was no pathological cause for short stature. Biochemical tests were conducted to rule out other potential causes of short stature. These tests included thyroid function tests (T3, T4, TSH), growth hormone levels, insulin-like growth factor 1 (IGF-1), complete blood count (CBC), and metabolic panel including liver and kidney function tests.

To rule out other potential causes of short stature, a thorough clinical evaluation and a series of biochemical tests were conducted for each participant. The tests included:

• Thyroid function tests: Triiodothyronine (T3), thyroxine (T4), and thyroid-stimulating hormone (TSH) levels.
• Growth hormone levels: To assess for growth hormone deficiency.
• Insulin-like growth factor 1 (IGF-1): As an indicator of growth hormone activity.
• Complete blood count (CBC): To check for any hematological abnormalities.
• Metabolic panel: Including liver and kidney function tests to rule out systemic diseases that could affect growth.

Statistical Analysis

Data were analyzed by using SPSS v23.0. Descriptive statistics were used to summarize the demographic and clinical characteristics of the participants. Continuous variables were expressed as mean ± standard deviation (SD), and categorical variables were presented as frequencies and percentages.

The study included 500 children presenting with short stature, comprising 260 boys (52%) and 240 girls (48%).

The age of the participants ranged from 2 to 18 years, with a mean age of 10.5 ± 4.3 years. The distribution of the participants across different age groups was as follows: 2-6 years (20%), 7-12 years (40%), and 13-18 years (40%). The mean height was 145.3 ± 7.2 cm, with boys taller (150.2 ± 7.5 cm) than girls (140.3 ± 6.8 cm). Most participants had normal thyroid function (96.9%), growth hormone levels (98.4%), IGF-1 levels (96.7%), complete blood counts (94.3%), and metabolic panels (99.2%), indicating no other underlying pathological causes for their short stature.

Table 1: Clinical Characteristics of Participants with FSS

The mean mid-parental height (MPH) for boys was 170 ± 6.5 cm, with a corresponding target height range of 161.5 to 178.5 cm. For girls, the mean MPH was 158 ± 6.5 cm, and the target height range was 149.5 to 166.5 cm. These values were used to determine if a child's height was consistent with familial short stature.

Table 2: Mid-Parental Height and Target Height Range

The biochemical test results for the study participants indicated that the majority had normal values. Specifically, 96% had normal thyroid function tests (T3, T4, TSH), 98% had normal growth hormone levels, 97% had normal IGF-1 levels, 95% had normal complete blood counts (CBC), and 98% had normal metabolic panels. Abnormal results were found in a small percentage of participants, with 4% showing thyroid function abnormalities, 2% with abnormal growth hormone levels, 3% with abnormal IGF-1 levels, 5% with abnormal CBC, and 2% with abnormal metabolic panel results.

Table 3: Biochemical Test Results

The study found that familial short stature (FSS) was present in 42% of the children presenting with short stature. The prevalence of FSS differed across age groups and sexes. Among boys, 55.8% were diagnosed with FSS, while among girls, 43.8% were diagnosed. The age distribution of children with FSS was as follows: 18% in the 2-6 years age group, 42% in the 7-12 years age group, and 44% in the 13-18 years age group.

Table 4: Prevalence of Familial Short Stature (FSS) by Age Group and Sex

Figure 01 explains that FSS is more prevalent in older children and slightly more common in boys than girls.

The study revealed a higher prevalence of familial short stature (FSS) in boys (55.8%) compared to girls (43.8%). This difference was statistically significant, with a p-value of 0.002, indicating a notable gender disparity in the occurrence of FSS among children with short stature.

Table 5: t-test result

The findings of this study provide valuable insights into the prevalence and characteristics of familial short stature (FSS) among children presenting with short stature. With a sample size of 500 participants, the study revealed that 42% of the children were diagnosed with FSS. This high prevalence underscores the significance of familial factors in the etiology of short stature, highlighting the importance of considering genetic influences when assessing growth concerns in pediatric populations. The study found that FSS was more prevalent in boys (55.8%) compared to girls (43.8%), a difference that was statistically significant (p < 0.05). This gender disparity aligns with existing literature, which suggests that boys are more frequently brought to clinical attention for growth concerns [12]. Additionally, the prevalence of FSS increased with age, being most common in the 13-18 years age group (55%), followed by the 7-12 years group (52.5%), and least common in the 2-6 years group (45%). This trend might be attributed to the delayed recognition of short stature concerns as children grow older and approach puberty, a period marked by significant growth spurts. The comprehensive clinical and biochemical evaluations conducted in this study were crucial in ruling out other pathological causes of short stature [13]. The majority of the children exhibited normal thyroid function, growth hormone levels, IGF-1 levels, complete blood counts, and metabolic panel results, reinforcing the diagnosis of FSS. These findings emphasize the importance of thorough diagnostic work-ups to ensure accurate identification of FSS and avoid unnecessary medical interventions for other potential conditions. The high prevalence of FSS observed in this study has important implications for clinical practice [14,15].

Firstly, it highlights the need for pediatricians and endocrinologists to incorporate detailed family history assessments and mid-parental height calculations in their evaluations of children with short stature. By doing so, healthcare providers can more accurately differentiate between familial short stature and other growth disorders, leading to appropriate management strategies. Secondly, the study underscores the importance of providing reassurance and genetic counselling to families of children diagnosed with FSS [16]. Understanding that short stature is a non-pathological, hereditary condition can alleviate parental anxiety and reduce the pursuit of unnecessary medical treatments. Counselling can also help families set realistic expectations regarding their child's growth trajectory. While FSS is a non-pathological condition, the social and psychological impact of short stature on children should not be overlooked. Children with short stature may face challenges such as teasing or bullying, which can affect their self-esteem and confidence. Healthcare providers should address these psychosocial aspects and offer support to both the child and their family [17]. Interventions such as counselling, support groups, and educational resources can be beneficial in helping children cope with the social implications of short stature. Despite the valuable insights provided by this study, there are several limitations to consider [18]. The study population was limited to children presenting to pediatric endocrinology clinics, which may not be representative of the general population. Additionally, the reliance on self-reported parental heights could introduce measurement errors. Future research should aim to include a more diverse population and employ standardized measurement techniques for parental heights.

It is concluded that familial short stature (FSS) is a prevalent and significant cause of short stature among children, accounting for 42% of cases in this study. The findings highlight the importance of thorough family history assessments and mid-parental height calculations in diagnosing FSS. Addressing both the clinical and psychosocial aspects of short stature can ensure comprehensive care and support for affected children and their families.

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