scholarly journals Etiology of severe short stature below −3 SDS in a screened Finnish population

2020 ◽  
Vol 183 (5) ◽  
pp. 481-488
Author(s):  
Juho Kärkinen ◽  
Päivi J Miettinen ◽  
Taneli Raivio ◽  
Matti Hero
Keyword(s):  
Short Stature ◽  
University Hospital ◽  
Hormone Deficiency ◽  
Growth Monitoring ◽  
Growth Data ◽  
Target Height ◽  
Hospital District ◽  
Sitting Height ◽  
Catch Up ◽  
Severe Short Stature

Objective: To describe the etiology of severe short stature in the Helsinki University Hospital district covering a population of 1.2 million that is subject to frequent growth monitoring and screening rules during childhood. Design: Retrospective cohort study. Methods: We identified all subjects born 1990 or later with a height SD score <−3, after the age of 3 years, from the Helsinki University Hospital district growth database. A total of 785 subjects (376 females and 409 males) fulfilled our inclusion criteria; we reviewed their medical records and growth data and report their underlying diagnoses. Results: A pathological cause for short stature was diagnosed in 76% of the girls and 71% of the boys (P = NS). Syndromes were the most numerous pathological cause (n = 160; 20%), followed by organ disorders (n = 127; 16%), growth hormone deficiency (GHD, n = 94; 12%), SGA without catch-up growth (n = 73; 9%), and skeletal dysplasias (n = 57; 7%). Idiopathic short stature (ISS) was diagnosed in 210 (27%) subjects. The probability of growth-related pathology, particularly of a syndrome or skeletal dysplasia, increased with the shorter height SD score and the greater deviation from the target height. Sitting height to height SDS was increased in subjects with ISS, GHD, and SGA (all P < 0.01). Conclusions: Height <−3 SDS after 3 years of age usually results from a pathological cause and should be thoroughly investigated in specialized health care. The chance of finding a specific etiology increased with the severity of short stature, and the mismatch with target height.

Etiologies, profile patterns and characteristics of children with short stature in Jordan

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Abeer Alassaf ◽  
Lobna Gharaibeh ◽  
Sarah Ibrahim ◽  
Rasha Odeh
Keyword(s):  
Short Stature ◽  
University Hospital ◽  
Hormone Deficiency ◽  
P Value ◽  
Growth Monitoring ◽  
Cross Sectional ◽  
Childhood Growth ◽  
Abnormal Growth ◽  
Psychological Behavior ◽  
Significant Difference

Abstract Objectives Childhood growth influences their social and psychological behavior, and abnormal growth may reflect underlying pathological etiologies. It is important to diagnose children with short stature as early as possible to be able to manage treatable causes. We aim to study etiologies and characteristics of short stature in children in Jordan. Methods This is a cross-sectional retrospective review of the medical records of children diagnosed with short stature at a referral university hospital. Clinical characteristics, auxological, laboratory, and radiological investigations were collected and analyzed. Results Among a total of 551 children diagnosed with short stature, the number of boys was significantly higher than girls, 304 (55.2%) and 247 (44.8%), respectively with a p-value of 0.015. Average age at presentation for all patients was 10.24 ± 3.23, with no significant difference between boys and girls. Pathological etiology was higher than normal variants 55.7 and 44.3%, respectively with p=0.007. Constitutional delay of growth and puberty (CDGP) was the most frequent cause in the normal variant group, 59.8%. Among the pathological group, the most common etiology was growth hormone deficiency (32.2%) with mean age of presentation of 9.40 years and was not significantly different from the age in other etiological groups, 9.44 years and p=0.931. Conclusions Growth monitoring of children should start at an early age for boys and girls. Referral to the pediatric endocrine clinic should be considered when growth problems are suspected for accurate diagnosis and etiology profiling.

scholarly journals Idiopathic short stature

2013 ◽  
Vol 141 (3-4) ◽  
pp. 256-261 ◽  
Author(s):  
Jovan Vlaski ◽  
Dragan Katanic ◽  
Jadranka Jovanovic-Privrodski ◽  
Ivana Kavecan ◽  
Ivana Vorgucin ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Standard Deviation ◽  
Short Stature ◽  
Standard Deviation Score ◽  
The Body ◽  
Idiopathic Short Stature ◽  
Hormone Deficiency ◽  
Growth Monitoring ◽  
Social Suffering ◽  
Deviation Score

Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment), which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients? genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l), without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3) or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

scholarly journals Same Phenotype in Children with Growth Hormone Deficiency and Resistance

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Irene Ioimo ◽  
Carmen Guarracino ◽  
Cristina Meazza ◽  
Horacio M. Domené ◽  
Mauro Bozzola
Keyword(s):  
Short Stature ◽  
Pcr Amplification ◽  
Hormone Deficiency ◽  
Saddle Nose ◽  
Laron Syndrome ◽  
First Case ◽  
Igf I ◽  
Undetectable Serum ◽  
Type Ia ◽  
Severe Short Stature

By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. The second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulating levels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. These classical cases show the importance of differential diagnosis in children with severe short stature.

Analysis of Short Stature in Children

2018 ◽  
Vol 3 (3) ◽  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Complete Blood Count ◽  
Tertiary Care ◽  
Normal Growth ◽  
Hormone Deficiency ◽  
Growth Data ◽  
Female Ratio ◽  
Pediatric Clinic ◽  
Detailed Medical History

Growth is a continuous biologic process influenced by genetic, nutritional, environmental, and hormonal factors. Normal growth can occur only if the individual is healthy. Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to assess the characteristics of patients referred to pediatric clinic because of short stature and determination of the etiology in tertiary care hospitals of Southeast Asia. This is a retrospective study of patients referred to a pediatric clinic with short stature during the period March 2015 to March 2018. After a proper detailed medical history, growth analysis and physical examination, followed by a radiological (bone age) and laboratory screening (complete blood count, urine and stool analysis and also thyroid function). Growth hormone stimulation tests were performed when indicated. Magnetic resonance imaging (MRI) of the pituitary was performed if required. As well, celiac screening and small bowel biopsy were performed when appropriate. During the period, two hundred and thirty eight patients were evaluated for short stature. Their age ranged from 3 years to 12 years. The male to female ratio was 1.3:1. The commonest etiology was genetic short stature found in 32 patients, while in the remaining patients, nutritional, endocrine, metabolic and other causes were noted. Short stature was a common referral. A wide variety of etiological diagnosis was noticed with genetic short stature being the commonest. A wide variety of endocrine causes were evident, with growth hormone deficiency, as a results of different etiologies, being the commonest.

scholarly journals Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH

2013 ◽  
Vol 168 (3) ◽  
pp. K35-K43 ◽  
Author(s):  
Vibor Petkovic ◽  
Maria Consolata Miletta ◽  
Annemieke M Boot ◽  
Monique Losekoot ◽  
Christa E Flück ◽  
...  
Keyword(s):  
Short Stature ◽  
Computational Simulation ◽  
Wild Type ◽  
Binding Studies ◽  
Gh Receptor ◽  
Stimulation Tests ◽  
Catch Up ◽  
Severe Short Stature ◽  
Design And Methods

ObjectiveShort stature caused by biologically inactive GH is clinically characterized by lack of GH action despite normal-high secretion of GH, pathologically low IGF1 concentrations and marked catch-up growth on GH replacement therapy.Design and methodsAdopted siblings (girl and a boy) of unknown family history were referred for assessment of short stature (−4.5 and −5.6 SDS) at the age of 10 and 8.1 years respectively. They had delayed bone ages (6.8 and 4.5 years), normal GH peaks at stimulation tests, and severely reduced IGF1 concentrations (−3.5 and −4.0 SDS). Genetic analysis of the GH1 gene showed a heterozygous P59S mutation at position involved in binding to GH receptor (GHR).ResultsIsoelectric focusing analysis of secreted GH in patient serum revealed the presence of higher GH-P59S peak compared with that of wt-GH. Furthermore, computational simulation of GH-P59S binding to GHR suggested problems in correct binding of the mutant to the GHR. In vitro GHR binding studies revealed reduced binding affinity of GH-P59S for GHR (IC50, 30 ng/ml) when compared with the wt-GH (IC50, 11.8 ng/ml) while a significantly decreased ability of the mutant to activate the Jak2/Stat5 signaling pathway was observed at physiological concentrations of 25–100 ng/ml.ConclusionsThe clinical and biochemical data of our patients support the diagnosis of partial bioinactive GH syndrome. The higher amount of GH-P59S secreted in their circulation combined with its impact on the wt-GH function on GHR binding and signaling may alter GHR responsiveness to wt-GH and could ultimately explain severe short stature found in our patients.

Solitary median maxillary central incisor with congenital strabismus and autoimmune thyroiditis in a young child

2021 ◽  
Vol 14 (2) ◽  
pp. e240418
Author(s):  
Tom Alex ◽  
Rathika Damodara Shenoy
Keyword(s):  
Short Stature ◽  
Autoimmune Thyroiditis ◽  
Bone Age ◽  
Hormone Deficiency ◽  
Growth Monitoring ◽  
Central Incisor ◽  
Maxillary Central Incisor ◽  
Pituitary Hyperplasia ◽  
Midline Defects ◽  
Congenital Strabismus

Single median maxillary central incisor (SMMCI) syndrome is rare. It is commonly associated with other midline defects. About 50% of children with SMMCI have short stature, associated with isolated growth hormone deficiency or panhypopituitarism.A 6-year-old girl presented to us with worsening convergent squint, slowing linear growth and a suspected pituitary macroadenoma on neuroimaging. The key findings on examination included a disproportionate short stature, SMMCI, congenital abduction defect and pseudohypertrophy of calf muscles with myopathy. The evaluation showed autoimmune thyroiditis with pituitary hyperplasia. Bone age corresponded to 3 years.Three months after initiation of thyroxine, her myopathy resolved, and the hormone profile and neuroimaging were normal. Autoimmune thyroiditis in association with SMMCI is not reported previously. This case study emphasises the importance of growth monitoring and the exclusion of common treatable conditions.

Bloom’s syndrome with growth hormone deficiency: a rare association

2020 ◽  
Vol 13 (10) ◽  
pp. e235238
Author(s):  
Madhavi Verpula ◽  
Vijay Sheker Reddy Danda ◽  
Srinivas Rao Paidipally ◽  
Chaitanya Konda
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hospital Admissions ◽  
Hormone Deficiency ◽  
Bloom's Syndrome ◽  
Gh Treatment ◽  
Rare Association ◽  
Bloom’S Syndrome ◽  
Severe Short Stature

We report a case of a 5-year-old boy presenting to us with short stature. He was born of consanguineous parentage and was small for gestational age. He had severe short stature, with height Z score of −6.2 SD Score, markedly delayed skeletal age, low level of insulin-like growth factor 1, unstimulated growth hormone and hypoplastic anterior pituitary gland on MRI. He was advised growth hormone (GH) replacement at 2 years of age, but he did not receive it . Later on, he developed photosensitive telangiectatic lesions over face and required multiple hospital admissions for recurrent systemic infections. Genetic analysis confirmed the diagnosis of Bloom’s syndrome. The present case report illustrates the need for high vigilance for conditions like Bloom’s syndrome in growth hormone deficiency (GHD), in whom GH treatment could potentially be harmful. Bloom’s syndrome with GHD is an exceedingly rare association.

Specialty Drugs for the Treatment of Short Stature in Children—Pros, Cons, and Perspectives for the Future

2010 ◽  
Vol 06 (01) ◽  
pp. 78
Author(s):  
Michaela B Koontz ◽  
Leona Cuttler ◽  
◽  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Hormone Deficiency ◽  
Current Status ◽  
Current Evidence ◽  
Recombinant Human Insulin ◽  
Growth Hormone Insensitivity ◽  
Severe Short Stature

Specialty drugs are generally defined as medications that involve special drug handling and/or parenteral administration and are typically used to treat complex medical conditions. They are typically biologicals, often very expensive, and generally prescribed by specialists. The recent surge in use of specialty pharmaceuticals has placed these drugs in the spotlight as policy-makers struggle to contain healthcare costs. Specialty drugs are central to discussions about optimal ways to manage childhood short stature; recombinant human growth hormone (rhGH) and recombinant human insulin-like growth factor-1 (rhIGF-1)—specialty drugs with annual prices of $20,000 to $30,000 per child—are available to treat childhood short stature from specific causes. rhGH and rhIGF-1 revolutionized treatment of severe short stature resulting from growth hormone deficiency and growth hormone insensitivity, respectively. Over the past 20 years, use of rhGH has expanded to other conditions. Expanded use of the newer rhIGF-1 may occur in an analogous manner. This article reviews the background, current status, and potential for these drugs in view of current evidence and policies.

scholarly journals Determinants of growth after kidney transplantation in prepubertal children

2021 ◽  
Author(s):  
Julia Grohs ◽  
Rainer-Maria Rebling ◽  
Kerstin Froede ◽  
Kristin Hmeidi ◽  
Leo Pavičić ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Short Stature ◽  
Body Height ◽  
Healthy Children ◽  
Older Children ◽  
Leg Length ◽  
Post Transplant ◽  
Sitting Height ◽  
Catch Up ◽  
Transplant Function

Abstract Background Short stature is a frequent complication after pediatric kidney transplantation (KT). Whether the type of transplantation and prior treatment with recombinant human growth hormone (GH) affects post-transplant growth, is unclear. Methods Body height, leg length, sitting height, and sitting height index (as a measure of body proportions) were prospectively investigated in 148 prepubertal patients enrolled in the CKD Growth and Development study with a median follow-up of 5.0 years. We used linear mixed-effects models to identify predictors for body dimensions. Results Pre-transplant Z scores for height (− 2.18), sitting height (− 1.37), and leg length (− 2.30) were reduced, and sitting height index (1.59) was increased compared to healthy children, indicating disproportionate short stature. Catch-up growth in children aged less than 4 years was mainly due to stimulated trunk length, and in older children to improved leg length, resulting in normalization of body height and proportions before puberty in the majority of patients. Use of GH in the pre-transplant period, congenital CKD, birth parameters, parental height, time after KT, steroid exposure, and transplant function were significantly associated with growth outcome. Although, unadjusted growth data suggested superior post-transplant growth after (pre-emptive) living donor KT, this was no longer true after adjusting for the abovementioned confounders. Conclusions Catch-up growth after KT is mainly due to stimulated trunk growth in young children (< 4 years) and improved leg growth in older children. Beside transplant function, steroid exposure and use of GH in the pre-transplant period are the main potentially modifiable factors associated with better growth outcome.

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