Genetic Analysis of Tall Stature

Kant, Sarina G.; Wit, Jan M.; Breuning, Martijn H.

doi:10.1159/000088589

Cited by 6 publications

(7 citation statements)

References 82 publications

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“…There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. The growth pattern in Malan syndrome resembles the growth pattern in Sotos syndrome in which initial overgrowth is very common but adult height is above 2 SD in only one-third of individuals [24, 25].…”

Section: Diagnostic Approach: Search For the Etiologymentioning

confidence: 99%

Tall Stature: A Challenge for Clinicians

Corredor

Dattani

Gertosio

et al. 2019

CPR

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Clinicians generally use the term “tall stature” to define a height more than two standard deviations above the mean for age and sex. In most cases, these subjects present with familial tall stature or a constitutional advance of growth which is diagnosed by excluding the other conditions associated with overgrowth. Nevertheless, it is necessary to be able to identify situations in which tall stature or an accelerated growth rate indicate an underlying disorder. A careful physical evaluation allows the classification of tall patients into two groups: those with a normal appearance and those with an abnormal appearance including disproportion or dysmorphism. In the first case, the growth rate has to be evaluated and, if it is normal for age and sex, the subjects may be considered as having familial tall stature or constitutional advance of growth or they may be obese, while if the growth rate is increased, pubertal status and thyroid function should be evaluated. In turn, tall subjects having an abnormal appearance can be divided into proportionate and disproportionate syndromic patients. Before initiating further investigations, the clinician needs to perform both a careful physical examination and growth evaluation. To exclude pathological conditions, the cause of tall stature needs to be considered, although most children are healthy and generally do not require treatment to inhibit growth progression.In particular cases, familial tall stature subject can be treated by inducing puberty early and leading to a complete fusion of the epiphyses, so final height is reached. This review aims to provide proposals about the management of tall children.

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Section: Diagnostic Approach: Search For the Etiologymentioning

confidence: 99%

Tall Stature: A Challenge for Clinicians

Corredor

Dattani

Gertosio

et al. 2019

CPR

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“…As causas secundárias são, em geral, de origem hormonal, ocorridas por mudanças na velocidade de crescimento. No grupo das idiopáticas, estão incluídas a alta estatura constitucional e a familiar, que representam as causas mais comuns de alta estatura (5) .…”

Section: Introductionunclassified

“…Tal fato pode estar associado ao conceito de que o crescimento acima da média é um bom indicador de nutrição, bem-estar social e qualidades positivas (4) . Por outro lado, é freqüente o impacto negativo da alta estatura na vida de alguns pacientes que apresentam como conseqüência uma dificuldade de relacionamento e vestuário, adoção de postura cifótica e isolamento social, por se sentirem diferentes da maioria (2,4,5) . O diagnóstico etiológico precoce é importante já que há a possibilidade de terapias hormonais e ortopédicas e, ainda, intervenções cirúrgicas no caso de etiologia tumoral (5) .…”

Section: Introductionunclassified

Casuística de pacientes com queixa principal de alta estatura atendidos em serviço de referência em Salvador, Bahia

Alves¹,

Lima²

2008

Rev. paul. pediatr.

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OBJETIVO: Descrever uma casuística de pacientes atendidos em serviço de referência em endocrinologia pediátrica com queixa principal de alta estatura. MÉTODOS: Revisão de prontuários de 1.980 pacientes atendidos no período de janeiro de 2003 a janeiro de 2007, incluindo apenas os indivíduos cuja queixa principal, na primeira consulta, fosse sua alta estatura. RESULTADOS: Foram encontrados 16 pacientes (0,8% do total de primeiras consultas). Destes, 12 preenchiam critérios diagnósticos de alta estatura (escore Z do indicador estatura para idade-ZE/I>2). Sete (58%) eram do sexo masculino. A idade em primeira consulta variou entre 3 anos e 4 meses e 13 anos e 3 meses. O ZE/I variou de 2,18 a 5,99 e a altura-alvo, de -1,10 a 1,24. Em relação às causas da alta estatura, concluiu-se que: sete pacientes (58%) tinham alta estatura familiar; dois (17%) idiopática e três (25%) sofriam de causas patológicas (síndrome de Marfan em um e adenoma hipofisário em dois deles). Nos quatro demais, o ZE/I variou de 1,86 a 1,98, não preenchendo critérios para alta estatura. Nestes, a etiologia do crescimento excessivo foi idiopática em dois, familiar em um e causado pela síndrome de Weaver em outro. CONCLUSÕES: A distribuição das etiologias de pacientes avaliados com a queixa de alta estatura está de acordo com a literatura, que relata ser familiar a principal causa. Embora alta estatura seja uma queixa principal pouco freqüente no consultório de endocrinologia pediátrica, a investigação deve ser cuidadosa a fim de se afastarem causas patológicas, que constituíram 25% dos casos.

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“…1,2 In the United Kingdom the prevalence is 1% of all live births. 3,4 The phenotype is heterogeneous and the genetic alterations are complex. More commonly, deletion/ mutations of imprinted genes within the chromosome 11p15.5 region are implicated.…”

mentioning

confidence: 99%

Hypopituitarism in a Patient With Beckwith-Wiedemann Syndrome Due to Hypomethylation of KvDMR1

Baiocchi¹,

Yousuf

Hussain

2014

Pediatrics

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Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, jaundice, and hypoglycemia, and who was followed for 4.5 years. Genetic test for BWS was performed, which detected loss of maternal methylation on region KvDMR1 (11p15.5). The hypoglycemia was attributable to hyperinsulinism and was treated with diazoxide and chlorothiazide. She responded well, but the hypoglycemia returned after reducing the diazoxide. It was possible to stop the diazoxide after 2.5 years. On routine follow-up she was noted to be developing short stature. Baseline pituitary and growth hormone (GH) stimulation tests detected GH deficiency and secondary hypothyroidism. A brain MRI showed a small anterior pituitary gland. Thereafter, thyroxine and replacement therapy with GH were started, which resulted in a remarkable improvement in growth velocity. This is the first patient to be reported as having hypopituitarism and BWS. It is unclear if the BWS and the hypopituitarism are somehow connected; however, further investigations are necessary. Hypopituitarism explains the protracted hypoglycemia and the short stature. In our patient, GH therapy seems to be safe, but strict follow-up is required given the increased cancer risk related to BWS.

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Genetic Analysis of Tall Stature

Cited by 6 publications

References 82 publications

Tall Stature: A Challenge for Clinicians

Tall Stature: A Challenge for Clinicians

Casuística de pacientes com queixa principal de alta estatura atendidos em serviço de referência em Salvador, Bahia

Hypopituitarism in a Patient With Beckwith-Wiedemann Syndrome Due to Hypomethylation of KvDMR1

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