Deficiência de hormônio do crescimento, hipotireoidismo e cromossomo 18 em anel: relato de caso

Thomas, Juliana de Vasconcellos; Mezzasalma, Daniela F.C.; Teixeira, Andreza M.; Campos, Ludmila N.R.; Luescher, Jorge Luiz; Beserra, Izabel Calland Ricarte; Guimarães, Marília M.

doi:10.1590/s0004-27302006000500019

Cited by 3 publications

(2 citation statements)

References 11 publications

(15 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Reported cases of GH deficiency in patients with ring 18 chromosome reveal inconsistent brain imaging results [5, 11, 13]. Additionally, a female with a ring 18 chromosome, GH deficiency, hypothyroidism, and ectopic posterior pituitary (but normal cortisol) has been described [14]. …”

Section: Discussionmentioning

confidence: 99%

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Bellfield

Chan

Durrin

et al. 2016

Case Reports in Endocrinology

View full text Add to dashboard Cite

We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.

show abstract

Section: Discussionmentioning

confidence: 99%

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Bellfield

Chan

Durrin

et al. 2016

Case Reports in Endocrinology

View full text Add to dashboard Cite

show abstract

“…Table 3 summarizes all 67 pathogenic CNVs published so far, found in 83 patients with CH, including the present study 5,13,14,16–65 . Forty‐five patients had their PP characterized by sellar MRI, 35 (78%) had EPP, two had absent PP and eight had normal PP.…”

Section: Resultsmentioning

confidence: 91%

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review

Correa‐Silva

Kunii

Mitne‐Neto

et al. 2022

J Neuroendocrinology

View full text Add to dashboard Cite

Abnormal hypothalamic/posterior pituitary development appears to be a major determinant of pituitary stalk interruption syndrome (PSIS). The observation of familial cases and associated congenital abnormalities suggests a genetic basis. Single‐gene mutations explain less than 5% of the cases, and whole exome sequencing has shown heterogeneous results. The present study aimed to assess copy number variation (CNV) using array‐based comparative genomic hybridization (aCGH) in patients with non‐syndromic PSIS and comprehensively review data from the literature on CNV analysis in congenital hypopituitarism (CH) patients. Twenty‐one patients with sporadic CH from our outpatient clinics presented with ectopic posterior pituitary (EPP) and no central nervous system abnormalities on magnetic resonance image (MRI) or any other malformations on physical examination at presentation were enrolled in the study. aCGH using a whole‐genome customized 400K oligonucleotide platform was performed in our patients. For the literature review, we searched for case reports of patients with CH and CNV detected by either karyotype or aCGH reported in PubMed up to November 2021. Thirty‐five distinct rare CNVs were observed in 18 patients (86%) and two of them (6%) were classified as pathogenic: one deletion of 1.8 Mb in chromosome 17 (17q12) and one deletion of 15 Mb in chromosome 18 (18p11.32p11.21), each one in a distinct patient. In the literature review, 67 pathogenic CNVs were published in 83 patients with CH, including the present study. Most of these patients had EPP (78% out of the 45 evaluated by sellar MRI) and were syndromic (70%). The most frequently affected chromosomes were X, 18, 20 and 1. Our study has found that CNV can be a mechanism of genetic abnormality in non‐syndromic patients with CH and EPP. In future studies, one or more genes in those CNVs, both pathogenic and variant of uncertain significance, may be considered as good candidate genes.

show abstract

Abnormal Myelination in Ring Chromosome 18 Syndrome

et al. 2012

View full text Add to dashboard Cite

Partial deletion of genetic material from the long arm of chromosome 18 results in a syndrome with multisystemic involvement, including dysmorphic features, intellectual disability, cardiac malformations, endocrine abnormalities, immunodeficiency, musculoskeletal deformities, and variable neurologic manifestations. Hypomyelination has been reported in patients with chromosome 18q- and postulated to be secondary to deletion of the gene coding for myelin basic protein found at 18q23. Little however is reported on cerebral anomalies seen in patients with ring chromosome 18, an analogous syndrome but with expectedly more severe phenotype secondary to the combined deletions of genetic material from both the short (p-) and long arm (q-) of chromosome 18. We are reporting a case of a girl with ring chromosome 18 and deletions involving 18p11.32-18p11.21 and 18q21.31-18q23. The abnormalities observed on magnetic resonance imaging are discussed with a specific focus on the evolution and significance of associated white matter changes.

show abstract

Deficiência de hormônio do crescimento, hipotireoidismo e cromossomo 18 em anel: relato de caso

Cited by 3 publications

References 11 publications

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review

Abnormal Myelination in Ring Chromosome 18 Syndrome

Contact Info

Product

Resources

About