scholarly journals Growth Patterns in Children With Multiple Endocrine Neoplasia Type 2B: Small Stature in Childhood

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A715-A715
Author(s):  
Medard F M van den Broek ◽  
Hanneke M van Santen ◽  
Gerlof D Valk ◽  
Annemarie A Verrijn Stuart
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Final Height ◽  
Growth Patterns ◽  
Age At Diagnosis ◽  
Longitudinal Growth ◽  
Childhood And Adolescence ◽  
Tall Stature ◽  
Small Stature ◽  
Endocrine Neoplasia ◽  
Arm Span

Abstract Background: Multiple Endocrine Neoplasia 2B (MEN2B) is characterized by medullary thyroid carcinoma (MTC) before the age of one, pheochromocytoma and several non-endocrine manifestations. Marfanoid habitus is considered to be an important related feature, leading to the assumption that children with MEN2B have a tall stature. However, very little is known about actual growth patterns in children with MEN2B and its implication for final height. Aim: To describe the growth patterns during childhood and adolescence and relate final height to target height (TH) in MEN2B patients. Methods: Growth during childhood was investigated in eight patients with MEN2B under care in a Dutch MEN expertise center. Growth charts were assessed in relation to parental height, age at diagnosis and at thyroidectomy, body mass index (BMI), pubertal development and extensiveness of disease manifestations. Results: Four out of eight patients showed longitudinal growth below their TH range. Three others showed prepubertal growth in the lowest margin of their TH range. Small stature was accompanied by delayed bone maturation. Arm span to height ratio was not increased in any of the (six) patients studied. All four patients who reached adulthood attained final height within their TH range, despite small stature during childhood. Small stature in childhood was not associated with age at diagnosis, age at thyroidectomy, extensiveness of MTC, BMI or endocrine deficiencies. Conclusions: Children with MEN2B did not present with marfanoid features regarding height or arm span. In contrary, short stature may be prevalent, with longitudinal growth beneath the individual TH range. Nevertheless, a normal final height within the TH range may well be reached. Growth patterns seem to be independent of both age at diagnosis and thyroidectomy as well as disease severity.

scholarly journals Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia

2010 ◽  
Vol 163 (3) ◽  
pp. 369-376 ◽  
Author(s):  
G Occhi ◽  
G Trivellin ◽  
F Ceccato ◽  
P De Lazzari ◽  
G Giorgi ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Collaborative Study ◽  
Point Mutations ◽  
Pituitary Tumors ◽  
Copy Number Variations ◽  
Age At Diagnosis ◽  
Interacting Protein ◽  
Silent Substitution ◽  
Endocrine Neoplasia ◽  
High Age

BackgroundGermline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27KIP1 encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). Somatotropinomas are present in most AIP mutated FIPA kindreds, as well as in two-thirds of MEN4 patients who carry pituitary tumors.MethodsGermline DNA samples of 131 Italian sporadic acromegalic patients including 38 individuals with multiple tumors, and of six FIPA families (four homogeneous for prolactinomas and two heterogeneous with prolactin/nonfunctioning pituitary adenomas) were collected in a multicentric collaborative study. The prevalence of AIP and CDKN1B gene point mutations and copy number variations were evaluated.ResultsTwo novel (IVS3+1G>A and c.871G>A) and one previously described (c.911G>A) AIP mutations were detected in four apparently sporadic cases (3.1%) with relatively high age at diagnosis (49±18, range 30–67). No mutations/rearrangements were detected in FIPA families. The highly conserved c.871G>A substitution was detected in a patient who also carried a MEN1 mutation suggesting that she is a double heterozygote. The possible pathogenic effect on AIP splicing of the silent substitution c.144G>A found in another patient was ruled out using a minigene-based approach. CDKN1B mutations/rearrangements were neither identified in patients with multiple neoplasia nor in FIPA families.ConclusionAIP is mutated in about 3% of apparently sporadic acromegalic patients. The relatively high age at diagnosis, as well as its sporadic presentation, suggests that these patients are carriers of mutations with reduced pathogenicity. p27KIP1 is unlikely to represent the common unifying nonendocrine etiology for acromegaly and cancer.

Multiple endocrine neoplasia syndromes 1 and 2: manifestations and management in childhood and adolescence

2015 ◽  
Vol 100 (10) ◽  
pp. 994-999 ◽  
Author(s):  
D Giri ◽  
V McKay ◽  
A Weber ◽  
JC Blair
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Clinical Care ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Review Article ◽  
Childhood And Adolescence ◽  
Genetic Causes ◽  
Endocrine Neoplasia ◽  
Clinical Surveillance ◽  
Multiple Endocrine Neoplasia Syndromes

The identification of the genetic causes of the multiple endocrine neoplasia (MEN) syndromes 1 and 2, and associated genotype–phenotype relationships, has revolutionised the clinical care of affected patients. A genetic diagnosis can be made during infancy and careful clinical surveillance, coupled with early intervention, has the potential to improve both morbidity and mortality. These developments have seen the management of patients with MEN move into the arena of paediatric medicine. In this review article, we consider the genetic causes of MEN together with the clinical manifestations and management of these syndromes.

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