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PubMed1997

[Recent progress in the diagnosis of growth hormone (GH) disorders].

Growth hormone (GH) disorders are characterized with clinical presentation of GH excess or deficiency. The pathogenesis and pathophysiology of GH disorders have been extensively studied with the sake of recent development of sensitive immunoassays and molecular cell biology. Highly sensitive immunoassays for GH have revealed the normal and abnormal GH secretory dynamics even under the detectable levels by conventional radioimmunoassay. Glucose loading clearly suppressed GH levels less than 1ng/ml in normal subjects. Clinical utility of insulin like growth factor-I (IGF-I) for diagnosing GH disorders was also evaluated. We have established the age- and sex-matched reference values of IGF-I and IGF binding protein-3 (IGFBP-3) in Japanese. Both IGF-I and IGFBP-3 had the similar diagnostic values for GH deficiency. Genetic alterations in GH secreting pituitary adenomas have been extensively studied. Gs alpha mutation has been found in about 30-40% of acromegaly. The prevalence of this mutation was previously considered low but recent studies showed even higher incidence in Japan. Other oncogenic mutations were considered rare in acromegaly. It is noteworthy that GH secreting adenoma tissues had high content of activated cyclic AMP responsive element-binding proteins (CREB). We have identified new mutation in GH-1 gene in patients with familial isolated GH deficiency type II, which resulted in the skipping of exon 3.

Acromegaly↗
PubMed2006

Growth hormone and its disorders.

Growth hormone (GH) is synthesised and secreted by the somatotroph cells of the anterior lobe of the pituitary gland. Its actions involve multiple organs and systems, affecting postnatal longitudinal growth as well as protein, lipid, and carbohydrate metabolism. GH hypersecretion results in gigantism or acromegaly, a condition associated with significant morbidity and mortality, while GH deficiency results in growth retardation in children and the GH deficiency syndrome in adults. This article, aimed at non-paediatric physicians, examines the clinical features, diagnosis, and current concepts in the management of these conditions.

Acromegaly↗
PubMed2002

Regulation of human growth hormone secretion and its disorders.

Growth hormone (GH) secretion from anterior pituitary is regulated by the hypothalamus and the mediators of GH actions. Major regulatory factors include GH releasing hormone (GHRH), somatostatin (SRIF), GH releasing peptide (ghrerin) and insulin-like growth factor (IGF-I). The principal physiological regulation mechanisms of GH secretion are neural endogenous rhythm, sleep, stress, exercise, and nutritional and metabolic signals. GH deficiency results from various hereditary or acquired causes, which may be isolated or combined with other pituitary hormone deficiencies. GH deficiency can be treated with recombinant human GH, which results in accelerating growth in children and normalization of intermediary metabolism in adults. GH hypersecretion mostly results from a pituitary tumor and causes acromegaly or gigantism. Hypersecretion of GH can be treated by transshenoidal surgery. Medical treatment with octreotide and analogs is also effective to reduce GH secretion in combination with or without the surgery.

Growth Disorders↗
PubMed2026

An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders.

Growth modeling is central to human genetics, as deviations from typical growth can signal an underlying disorder. In this cohort study, we developed a generalizable framework for generating growth charts across genetic conditions using electronic health records (EHR). Leveraging 22 years of longitudinal EHR data from 452,470 patients across 15 genetic conditions and unaffected individuals, we generated sex- and condition-specific growth charts using Generalized Additive Models for Location, Scale, and Shape, and quantified differences in size, timing, and intensity using SuperImposition by Translation and Rotation (SITAR). SITAR-derived growth parameters showed strong concordance with established annotations in OMIM and Orphanet, and identified previously unreported growth patterns. We stratified cystic fibrosis by CFTR functional class and observed greater growth impairment in individuals with homozygous minimal-function variants compared to those with residual function. This framework provides a generalizable approach for leveraging EHR data to refine genotype-phenotype relationships and enable continuous updating of growth charts across genetic conditions.

Journal Article↗
PubMed1996

IGF-1 and IGFBP-3 screening for disorders of growth hormone secretion.

AIM: To assess the value of plasma assays of insulin like growth factor (IGF-1) and insulin like growth factor binding protein 3 (IGFBP-3) in the diagnosis of growth hormone disorders in children and adults. METHODS: Plasma IGF-1 and IGFBP-3 were measured in 47 children referred for the assessment of short stature, 26 adult subjects with hypopituitarism and in 10 adult subjects with acromegaly. Findings were compared with results obtained in 148 normal children and 124 normal adult subjects who comprised the reference range. RESULTS: Levels of both growth factors and especially IGF-1 are highly age dependent in normal children and adults. Six of 47 short children had growth hormone deficiency and in these cases both IGF-1 and IGFBP-3 were close to the lower limit or below the normal reference range. In young children ( < 10 yr) IGFBP-3 was more informative than IGF-1, distinguishing normal short children from those with growth hormone deficiency. IGF-1 levels were raised in all 10 acromegalic adults, eight of whom had normal levels of IGFBP-3. Similarly growth hormone deficient adults were better identified (23 of 26 patients) by IGF-1 whereas IGFBP-3 was subnormal in only eight cases. CONCLUSIONS: Provided results are reviewed in relation to an age related normal reference range, both IGF-1 and IGFBP-3 are simple and convenient screening tests for assessing growth hormone deficiency in children. In adults plasma IGF-1 is the diagnostic test for a disorder of growth hormone excess. Low IGF-1 in an adult with a history of pituitary disease strongly suggests the presence of growth hormone deficiency.

Acromegaly↗
PubMed1977

Serum somatomedin-C in hypopituitarism and in other disorders of growth.

Serum levels of somatomedin-C have been measured by a competitive membrane binding assay in normal individuals, in hypopituitary dwarfs, and in children with growth retardation from causes other than growth hormone deficiency. The mean level in untreated hypopituitary children is about 40% of that of age-matched normal children. Treatment of hypopituitary dwarfs with human growth hormone results in prompt increases in the serum concentration of somatomedin-C. Normalization of somatomedin is associated with the return of pituitary function in hospitalized psychosocial dwarfs. Supporting the possibility that somatomedin-C plays a pivotal role in skeletal growth is the finding that serum levels in hypopituitary children correlate with growth rate both on and off growth hormone therapy. In our hands, this assay has proved to be an efficient, reliable method for the diagnosis of growth hormone deficiency.

Child↗
PubMed2002

Growth in disorders of adrenal hyperfunction.

Growth is disturbed by adrenal hypersecretion of androgens or cortisol. Androgen excess in virilizing adrenal tumours causes advanced growth and bone age. In 9 girls with virilizing tumours, mean heights at diagnosis and final heights were 1.23 +/- 0.42 and 1.3 +/- 0.37 SDS respectively. In poorly controlled CAH, excess androgens cause early epiphyseal fusion and adult short stature. Increased growth occurs only after 18 months of age, even in untreated CAH, i.e. hydrocortisone >10 mg/m(2)/day is not generally required and may suppress infantile growth, affecting childhood and adult height. Growth was studied in 19 patients, aged 6.4-17.8 years, with Cushing's disease (CD). At diagnosis, mean height SDS was -1.81 (1.2 to -4.17), 53% < -1.8 SDS, height velocity in 6 was 0.9-3.8 cm/year and mean BMI SDS 2.29 (0.7-5.06). From 1983 to 2001, CD was cured in 18 patients (61%) by transsphenoidal surgery (TSS) alone and 39% by TSS plus pituitary irradiation (RT). In 13 patients, growth hormone (GH) was assessed by ITT/glucagons at 1-108 months after cure. Four had severe GH deficiency (<9 mU/l), 7 subnormal (10-29 mU/l) and 2 normal (>30 mU/l) GH status. Subnormal GH was present in 7 subjects >2 years after TSS or RT cure. In 10 subjects, aged 12.9 +/- 3.4 years, growth after cure was studied for 9.1 +/- 5.0 years. Nine had no catch-up growth in the interval of 0.3-1.1 years after cure (mean HV 5.3 +/- 2.4 cm/year). All these had GH deficiency peak GH 0.5-20.9 mU/l, and received hGH 2.7 mg/m(2)/week, 3 with GnRHa. All 10 showed long-term catch-up growth with mean delta SDS at diagnosis (Ht SDS-target Ht SDS) -1.72 +/- 1.26 improving to -0.83 +/- 1.08 (p = 0.0005) at latest of final Ht. At diagnosis, virilization was present in 82% of 17 patients with CD. Mean SDS values of serum androstenedione, DHEA-S and testosterone were normal, i.e. 0.72 (-2.9 to 3.0), -0.8 (6.0 to 2.2), 0.7 (-7.9 to 9.5) respectively, whereas SHBG was reduced at -2.1 (-5.3 to 1.2), increasing free androgen levels. Bone age (BA) was delayed (mean 1.46 years) in 14/16 patients, suggesting cortisol excess contributed more then androgen effect to skeletal maturation. In conclusion, most paediatric patients with CD had subnormal linear growth with delayed BA. After cure by TSS or pituitary irradiation, GH deficiency was frequent and persisted for many years. Treatment with hGH induced significant long-term catch-up growth leading to reasonable final height.

Adolescent↗