Biomaterial Database

Genetic evaluation of short stature. 2011

J M Wit, and W Kiess, and P Mullis

Department of Paediatrics, J6S Leiden University Medical Center, Leiden, The Netherlands. j.m.wit@lumc.nl

After a proper medical history, growth analysis and physical examination of a short child, followed by radiological and laboratory screening, the clinician may decide to perform genetic testing. We propose several clinical algorithms that can be used to establish the diagnosis. GH1 and GHRHR should be tested in children with severe isolated growth hormone deficiency and a positive family history. A multiple pituitary dysfunction can be caused by defects in several genes, of which PROP1 and POU1F1 are most common. GH resistance can be caused by genetic defects in GHR, STAT5B, IGF1, IGFALS, which all have their specific clinical and biochemical characteristics. IGF-I resistance is seen in heterozygous defects of the IGF1R. If besides short stature additional abnormalities are present, these should be matched with known dysmorphic syndromes. If no obvious candidate gene can be determined, a whole genome approach can be taken to check for deletions, duplications and/or uniparental disomies.

UI	MeSH Term	Description	Entries
D001827	Body Height	The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.	Body Heights,Height, Body,Heights, Body
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006130	Growth Disorders	Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.	Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000465	Algorithms	A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.	Algorithm
D017526	Receptor, IGF Type 1	A protein-tyrosine kinase receptor that is closely related in structure to the INSULIN RECEPTOR. Although commonly referred to as the IGF-I receptor, it binds both IGF-I and IGF-II with high affinity. It is comprised of a tetramer of two alpha and two beta subunits which are derived from cleavage of a single precursor protein. The beta subunit contains an intrinsic tyrosine kinase domain.	IGF Type 1 Receptor,IGF-I Receptor,Receptor, IGF-I,Receptor, Insulin-Like Growth Factor I,Receptor, Insulin-Like Growth Factor Type 1,IGF-1 Receptor,Insulin-Like-Growth Factor I Receptor,Receptor, IGF Type 1 alpha Subunit,Receptor, IGF Type 1 beta Subunit,Receptors, IGF-1,Receptors, Insulin-Like-Growth Factor I,IGF 1 Receptor,IGF I Receptor,IGF-1 Receptors,Insulin Like Growth Factor I Receptor,Receptor, IGF I,Receptor, IGF-1,Receptors, IGF 1
D050799	STAT5 Transcription Factor	A signal transducer and activator of transcription that mediates cellular responses to a variety of CYTOKINES. Stat5 activation is associated with transcription of CELL CYCLE regulators such as CYCLIN KINASE INHIBITOR P21 and anti-apoptotic genes such as BCL-2 GENES. Stat5 is constitutively activated in many patients with acute MYELOID LEUKEMIA.	Mammary Gland Factor,Mammary Gland-Specific Nuclear Factor,STAT5 Protein,STAT5a Protein,STAT5a Transcription Factor,STAT5alpha Protein,STAT5b Protein,STAT5b Transcription Factor,STAT5beta Protein,Signal Transducer and Activator of Transcription 5,Signal Transducer and Activator of Transcription 5A,Signal Transducer and Activator of Transcription 5B,Factor, STAT5 Transcription,Mammary Gland Specific Nuclear Factor,Transcription Factor, STAT5,Transcription Factor, STAT5a,Transcription Factor, STAT5b
D018013	Receptors, Neuropeptide	Cell surface receptors that bind specific neuropeptides with high affinity and trigger intracellular changes influencing the behavior of cells. Many neuropeptides are also hormones outside of the nervous system.	Neuropeptide Receptors,Neuropeptide Receptor,Receptors, Neuropeptides,Neuropeptides Receptors,Receptor, Neuropeptide
D018017	Receptors, Pituitary Hormone-Regulating Hormone	Cell surface receptors that bind the hypothalamic hormones regulating pituitary cell differentiation, proliferation, and hormone synthesis and release, including the pituitary-releasing and release-inhibiting hormones. The pituitary hormone-regulating hormones are also released by cells other than hypothalamic neurons, and their receptors also occur on non-pituitary cells, especially brain neurons, where their role is less well understood. Receptors for dopamine, which is a prolactin release-inhibiting hormone as well as a common neurotransmitter, are not included here.	Hypothalamic Release-Inhibiting Hormone Receptors,Hypothalamic Releasing Hormone Receptors,Pituitary Hormone-Regulating Hormone Receptors,Pituitary Hormone-Releasing Hormone Receptors,Receptors, Hypothalamic Release-Inhibiting Hormones,Receptors, Hypothalamic Releasing Hormones,Receptors, Pituitary Hormone Release Inhibiting Hormones,Receptors, Pituitary Hormone-Releasing Hormone,Hypothalamic Release Inhibiting Hormone Receptors,Pituitary Hormone Regulating Hormone Receptors,Pituitary Hormone Releasing Hormone Receptors,Receptors, Hypothalamic Release Inhibiting Hormones,Receptors, Pituitary Hormone Regulating Hormone,Receptors, Pituitary Hormone Releasing Hormone