Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

Schaefer, Gerald; Rosenbloom, A L; Guevara‐Aguirre, Jaime; Campbell, Ewan; Ullrich, Frank; Patil, Ketan; Frias, J L

doi:10.1136/jmg.31.8.635

Cited by 37 publications

(14 citation statements)

References 22 publications

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“…W227ter/W227ter mice have a characteristic dysmorphic craniofacial shape similar to that found in human patients with LHX3 mutations and growth hormone deficiencies (15)(16)(17)21). Although they are small in size and tend to cluster with litter mates (likely for body warmth because of hypothyroidism), Lhx3 W227ter/W227ter mice appear to interact and eat normally.…”

Section: In Addition To Dwarfism Lhx3mentioning

confidence: 63%

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Colvin

Malik

Showalter

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

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The etiology of most pediatric hormone deficiency diseases is poorly understood. Children with combined pituitary hormone deficiency (CPHD) have insufficient levels of multiple anterior pituitary hormones causing short stature, metabolic disease, pubertal failure, and often have associated nervous system symptoms. Mutations in developmental regulatory genes required for the specification of the hormone-secreting cell types of the pituitary gland underlie severe forms of CPHD. To better understand these diseases, we have created a unique mouse model of CPHD with a targeted knockin mutation (Lhx3 W227ter), which is a model for the human LHX3 W224ter disease. The LHX3 gene encodes a LIM-homeodomain transcription factor, which has essential roles in pituitary and nervous system development in mammals. The introduced premature termination codon results in deletion of the carboxyl terminal region of the LHX3 protein, which is critical for pituitary gene activation. Mice that lack all LHX3 function do not survive beyond birth. By contrast, the homozygous Lhx3 W227ter mice survive, but display marked dwarfism, thyroid disease, and female infertility. Importantly, the Lhx3 W227ter mice have no apparent nervous system deficits. The Lhx3 W227ter mouse model provides a unique array of hormone deficits and facilitates experimental approaches that are not feasible with human patients. These experiments demonstrate that the carboxyl terminus of the LHX3 transcription factor is not required for viability. More broadly, this study reveals that the in vivo actions of a transcription factor in different tissues are molecularly separable.endocrinology | growth | reproduction | metabolism

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Section: In Addition To Dwarfism Lhx3mentioning

confidence: 63%

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Colvin

Malik

Showalter

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

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“…11 Interestingly, patients with GHR defi-ciency exhibit craniofacial morphology characterized by poor vertical growth. 12 The relationship between GHR gene variants in the general population and craniofacial morphology has been examined in previous studies. The relationship between rs6184 in exon 10 of GHR and mandibular ramus height in a Japanese population, as well as similar findings in Korean and Turkish populations, have been previously reported.…”

Section: Introductionmentioning

confidence: 99%

Growth hormone receptor gene variant and three-dimensional mandibular morphology

Nakawaki

Yamaguchi

Isa

et al. 2016

The Angle Orthodontist

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Objective: To examine the relationship between three-dimensional mandibular morphology and growth hormone receptor (GHR) gene variants in a healthy Japanese population. Materials and Methods: The subjects, who were unrelated Japanese orthodontic patients, consisted of 64 men and 114 women. Using the Taqman genotyping assay, GHR gene rs6184 and rs6180 variants were detected in genomic DNA extracted from saliva. Mandibular volume and length were measured from cone-beam computed tomography images that were analyzed using Analyze image-processing software. The relationship between GHR gene variants and threedimensional mandibular morphology was statistically examined. Results: Statistical significance for the relationship between the distance between the left and right coronoid processes and rs6180 was noted (P , .05). Conclusion: Our results indicate that the GHR variant rs6180 is associated with the distance between the left and right coronoid process in the Japanese subjects. (Angle Orthod. 2017;87:68-73)

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“…All but one had a head circumference that was more than 2.2 sd below the mean for chronological age. Head circumference was considered to be normal for height in GHD and GHRD (23). The reason for the reduced head size in these Dominican patients is unclear.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 Gene¹

Rosenbloom

Almonté²,

Brown

et al. 1999

The Journal of Clinical Endocrinology & Metabolism

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We have investigated the largest family with PROP1 deficiency reported to date. Eight patients, aged 17-40 yr, in two sibships with possibly related mothers but no parental consanguinity were 109 -137 cm in height (Ϫ8.8 to [minsu]5.9 SD score) and sexually immature. None had received hormonal therapy. Affected individuals had similarities to and significant differences from patients with insulin-like growth factor I (IGF-I) deficiency due to GH receptor deficiency (GHRD) and normal thyroid function and sexual maturation. The differences from patients with GHRD include normal hand and foot length in seven of eight, normal arm span with relatively long legs, and persistence of extremely low levels of IGF-I into adulthood; similarities include the degree of growth failure, frequent but not uniform increased body weight for height or body mass index, and the presence of limited elbow extensibility and blue scleras in six of eight. Three patients had markedly increased sella turcica area for height age and bone age, determined from lateral skull films. The degree of sellar enlargement is variable in these two sibships.Serum GH concentrations were 0.1 ng/mL or less after clonidine ingestion. Other results were: IGF-I, 3-11 ng/mL (normal, 114 -492); IGF-II, 185-299 ng/mL (normal, 358 -854); IGF-binding protein-1 (IGFBP-1), 12-200 ng/mL (normal, 13-73); IGFBP-2, 60 -384 ng/mL (normal, 55-480); and IGFBP-3, 400 -600 ng/mL (normal, 2000 -4000). The very low IGF-I and normal IGFBP-1 and -2 levels differ from findings in adults with GHRD. The GH-binding protein concentration was 58 -799 pmol/L, with two patients above the normal range of 66 -306. LH and FSH levels were very low, with no sex differences between serum levels of estradiol (3-6 pg/mL) and testosterone (3-10 ng/dL). PRL levels all were below normal. Serum concentrations of cortisol were normal. Serum T 4 levels were uniformly low (Ͻ0.2-0.5; normal, 0.8 -2.7 ng/dL), free T 3 values were less than normal in seven of eight subjects, and total T 3 concentrations were below normal in five of eight, but TSH levels were normal (0.58 -2.18; normal, 0.4 -4.2 mU/L).DNA specimens from affected individuals in each sibship were homozygous for a 2-bp deletion in exon 2 of the PROPI (Prophet of Pit-I) gene, which causes a shift of reading frames and results in a translational stop signal at codon 109. The mutant protein, when expressed in vivo lacks DNA-binding and transcriptional activation functions. The consequences of the PROPI abnormality in this and other kindreds include gonadotropin deficiency as well as the expected deficiencies in products of Pit-I-dependent somatotrophs, lactotrophs, and thyrotrophs. The severity of the hormone deficiency phenotype is compatible with the complete loss of PROP1 activity. (J Clin Endocrinol Metab 84: 50 -57, 1999)

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Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

Cited by 37 publications

References 22 publications

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Growth hormone receptor gene variant and three-dimensional mandibular morphology

Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 Gene¹

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Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

Cited by 37 publications

References 22 publications

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Growth hormone receptor gene variant and three-dimensional mandibular morphology

Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 Gene1

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Product

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Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 Gene¹