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

Bellfield, Edward J.; Chan, Jacqueline T.; Durrin, Sarah; Lindgren, Valerie; Shad, Zohra; Boucher‐Berry, Claudia

doi:10.1155/2016/2853178

Cited by 5 publications

(11 citation statements)

References 15 publications

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“…Different from most of other 18p deletion patients reported, our patient has no pituitary abnormality or GH deficiency [Bellfield et al, 2016]. Her linear growth was improved dramatically from -2.5 to -1.0 SD after 2 years and 3 months of GH therapy.…”

Section: Discussioncontrasting

confidence: 58%

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Sun

Wan²,

Wang³

et al. 2018

Cytogenet Genome Res

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18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions. Her neuropsychological assessment test demonstrated delay in most cognitive functions including impaired mathematics, linguistic skills, visual motor perception, respond speed, and executive function. Meanwhile, her integrated visual and auditory continuous performance test (IVA-CPT) indicated a severe comprehensive attention deficit. At age 7 and 1/12 years, her height was 110.8 cm (-2.5 SD height for age). Growth hormone (GH) treatment was initiated. After 27 months treatment, her height was increased to 129.6 cm (-1.0 SD height for age) at 9 and 4/12 years, indicating an effective response to GH treatment.

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Section: Discussioncontrasting

confidence: 58%

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Sun

Wan²,

Wang³

et al. 2018

Cytogenet Genome Res

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“…According to the most recent review of 18p deletion syndrome [7], approximately 23% of patients had isolated GH deficiency, while 13% had hypopituitarism. However, to date, only one case of panhypopituitarism associated with 18p deletion syndrome has been reported [9]. Therefore, it is noteworthy that our patient is the second case of panhypopituitarism with pituitary hypoplasia related to 18p deletion syndrome.…”

Section: Discussionmentioning

confidence: 75%

“…CMA confirmed a 14.9-Mb deletion at 18p11.32p11.21 (chr18: 136,227–15,099,116)×1. The 18p deletion syndrome was first described in 1963 by de Grouchy et al [8] In addition to the typical clinical features, isolated hormone deficiencies and hypopituitarism have been described as features of 18p deletion syndrome [7,9,10]. According to the most recent review of 18p deletion syndrome [7], approximately 23% of patients had isolated GH deficiency, while 13% had hypopituitarism.…”

Section: Discussionmentioning

confidence: 99%

A case of de novo 18p deletion syndrome with panhypopituitarism

Yang

Kim

Cho

et al. 2019

Ann Pediatr Endocrinol Metab

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Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.

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“…The remaining syndromes are represented by one or two studies. Fifteen studies used clinical and molecular methods for diagnoses, 9,16,18,22,25,28,31,32,34,35,40,43,51,52 18 studies used only a clinical diagnosis 21,23,24,26,27,30,36,41,42,44–49,53 and six studies were unclear in their method of diagnosis 6,17,29,33,38,39 …”

Section: Resultsmentioning

confidence: 99%

“…There were 38 studies included in this review. This comprises 19 case series, 9,17,18,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35] 12 case reports [36][37][38][39][40][41][42][43][44][45][46][47] and seven casecontrol studies. 6,16,[48][49][50][51] Sample sizes ranged from 1 to 78 cases.…”

Section: Characteristics Of Included Studiesmentioning

confidence: 99%

Sella turcica morphology in patients with genetic syndromes: A systematic review

Roomaney

2020

Orthod Craniofacial Res

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The sella turcica is an important anatomical reference used in orthodontics for the evaluation of craniofacial growth. Studies have found variations in the sella turcica morphology in patients with syndromes affecting the craniofacial complex. This review aims to determine whether genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and whether there is a pattern of malformation which is consistent within each syndrome. An electronic database search was conducted to identify relevant studies. We included primary studies describing the morphology of the sella turcica on lateral radiographs in human subjects with genetic syndromes involving the craniofacial complex. No restrictions were placed on language or timeframe. PROSPERO registration CRD42019148060. Thirty‐eight studies were included in this review. A ‘J’‐shaped sella was found in patients with Hutchinson‐Gilford‐Progeria syndrome and other syndromes. A bulbous dorsum sellae was highly prevalent Cleidocranial dysplasia, and a bulbous dorsum sellae and uneven contours of the clivus was found in Cri du chat syndrome. A steep clivus was described in patients with Axenfeld‐Rieger syndrome. An oblique anterior wall was the most frequent malformation found in Down’s syndrome. Genetic syndromes affecting the craniofacial complex are associated with abnormal morphology of the radiographic sella turcica. Clinicians should be observant of abnormal sella turcica morphology which can be a sign of undiagnosed or subclinical syndromes. More high‐quality studies are needed which use standardized and objective methods of determining the morphology of the sella turcica.

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

Cited by 5 publications

References 15 publications

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

A case of de novo 18p deletion syndrome with panhypopituitarism

Sella turcica morphology in patients with genetic syndromes: A systematic review

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