Ref Number = ASPR0036
A Girl Presenting with Short Stature: Initial Approach and Her Medical Concerns
Novina Novinaa*
a Endocrinology Division, Child Health Department, Faculty of Medicine, 
Universitas Padjadjaran / Hasan Sadikin General Hospital, Bandung, Indonesia
*E-mail: novina@unpad.ac.id
Growth and development are fundamental characteristics of a child. Under normal circumstances, growth pattern can be predicted. Variations between normal, abnormal growth, and also variance of a pathological condition should be distinguished. Regular and accurate height measurement plotted on the reference growth curve is a low-cost and simple tool to detect any abnormal growth in children. 

Diagnostic Approach of Short Stature
Growth disturbance in both boys and girls could result in short stature. Short stature can be categorised as proportionate and disproportionate short stature based on the upper-to-lower body segment (U/L) ratio (sitting height/leg length). Diagnosing the underlying cause of short stature can be done by doing a thorough history taking and physical examinations. 
On history taking, history of pregnancy and birth, family history, developmental milestone, medication, disturbance on daily function, pubertal history, medical events and neurological symptoms should be asked and noted.1
On physical examination, anthropometric measurement should be done accurately, including height, sitting height, and head circumference. Height and weight must be plotted to either WHO or CDC growth curve, depending on the subject?s age. U/L body segment ratio must be plotted to U/L body segment ratio curve to determine its normalcy.2, 3
Genetic height potential must be taken into account on a girl with short stature, since 70-80% final height is determined by genetic factor. Below is the genetic potential height (in cm) in Indonesia:4
Boys: [(mother?s height + 13) + father?s height] / 2 cm +- 8.5 cm.
Girls: [(father?s height -13) + mother?s height] / 2 cm +- 8.5 cm.
Laboratory/imaging studies are used to eliminate the differential diagnosis and establish the diagnosis.
It should be noted that not all short stature cases need to be treated, since some do not have any underlying pathological cause. Algorithm below can be used to evaluate a child with short stature.1    ASPR0036 - 1  Based on European Society of Paediatric Endocrinology (ESPE), growth disorders are classified as:   ASPR0036 - 2
Several pathological conditions which might result in short stature in a girl. The findings to be noted along with the short stature on the examinations are summarized below:  ASPR0036 - 3  Hypothyroidism
Congenital hypothyroidism (CH) affects 1 of 3000-4000 babies. Late treatment could impair intelligence permanently and could result in short stature. CH screening is an effective program to prevent the sequelae of late treated CH.6, 14 

Small for Gestational Age (SGA)
Defined as birth weight or height below -2 SD of the average gestational age and sex based on population, SGA refers to birth size despite the growth velocity in the uterus. Most SGA babies were having Intrauterine Growth Retardation (IUGR). Both terms are often used interchangeably, but they have to be differed. Babies born with IUGR will also have SGA, but not vice versa. About 15% SGA babies will have permanent short stature if there is no catch up growth until 2 years old.8, 9, 11, 15

Growth Hormone Deficiency (GHD)
GHD can present at birth or develop later in life. Newborn babies with GHD may have hypoglycaemia or small penis. Children with GHD will have short stature, abdominal obesity and delayed puberty. Random single GH examination is rarely helpful in GH deficiency diagnosis due to its pulsatile secretion with 4-6 pulses/24 hours, thus, GH provocation test needs to be done to establish the diagnosis.11, 16

Turner Syndrome (TS)
TS is a syndrome or a group of symptoms found in women caused by abnormality of all or part of X chromosome. It is classified as classical (45XO) and mosaic (other abnormalities) karyotype. This syndrome affects 1 of 2000-2500 births in baby girls. It is not hereditary unless when partial deletion of X chromosome happens.7, 17, 18
Usually, the chief complain of the patient is short stature and/or delayed puberty. Girls of all age are advised to do chromosome examination when other causes of short stature is not found.1, 19, 20

Stunting is one of the main nutritional problems in Indonesia. Its prevalence is static; 36.8% in 2007, 35.6% in 2010, 37.2% in 2013, and 30.8% in 2018.14
Based on Kementerian Kesehatan Indonesia, stunting is defined as a condition where a child?s height is less than -2 SD based on WHO growth chart; stunting is often synonymised with short stature and often used as an indicator for chronic malnutrition condition. However, a research done in Indonesia stated that stunting, when based on the definition above, is not a synonym of malnutrition. In this study, the samples were children with height <-2 SD based on WHO growth chart and there was no significant relationship between height and malnutrition. Thus, stunting must be differed from short stature.12, 21 
Keywords: Girl; Short Stature; Hypothyroidism; Small for Gestational Age; Growth Hormone Deficiency; Turner Syndrome; Stunting
1. Novina N, Walenkamp MJ. Management of children with short stature. Pediatr Oncall J. 2019;16.
2. Braun LR, Marino R. Disorders of Growth and Stature. Pediatrics in review. 2017;38(7):293-304.
3. Ismail H, Ness K. Evaluation of short stature in children. Pediatric annals. 2013;42(11):e227-e32.
4. Pujiadi AH, Hegar B, Handyasttuti S, Idris NS, Gandaputra EP, Harmoniati ED. Pedoman Pelayanan Medis Ikatan Dokter Anak Indonesia. Available from: http://idai.or.id/downloads/PPM/Buku-PPM.pdf.
5. Short Stature. In: Wit JM, Ranke MB, Kelnar CJH, editors. ESPE Classification of Paediatric Endocrine Diagnoses Hormone Research: Karger; 2007. p. 1-9.
6. Brown RS. The Thyroid. In: Brook C, Clayton P, Brown R, editors. Brook?s Clinical Pediatric Endocrinology. 6th ed. United Kingdom: Wiley-Blackwell; 2009. p. 250-82.
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11. Growth Hormone Deficiency.  Bsped: Child Growth Foundation; 2003. p. 1-18.
12. Scheffler C, Hermanussen M, Bogin B, Liana D, Taolin F, Cempaka P, et al. Stunting is not a synonym of malnutrition. European journal of clinical nutrition. 2019:1.
13. Ibrahim S, Abdel Maksoud A, Nassar M. Nutritional stunting in Egypt: which nutrient is responsible?. WHO. 2002.
14. Hasil Utama Riskedas. Jakarta; 2018.
15. Darendeliler F. IUGR: genetic influences, metabolic problems, environmental associations/triggers, current and future management. Best Practice & Research Clinical Endocrinology & Metabolism. 2019:1-8.
16. Walles JK. Evaluation of Growth Disorders. In: Brook CGD, Clayton PE, Brown RS, editors. Brook?s Clinical Pediatric Endocrinology. 6th ed. United Kingdom: Blackwell Publishing; 2009. p. 124-54.
17. Stochholm K, Juul S, Juel K, Naeraa RW, H?jbjerg Gravholt C. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. The Journal of Clinical Endocrinology & Metabolism. 2006;91(10):3897-902.
18. Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in 
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