Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes

Tatsi, Christina; Sertedaki, Amalia; Voutetakis, Antonis; Valavani, Eleni; Magiakou, Maria Alexandra; Kanaka‐Gantenbein, Christina; Chrousos, George P.; Dacou-Voutetakis, Catherine

doi:10.1210/jc.2012-3982

Cited by 55 publications

(66 citation statements)

References 37 publications

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“…Deletions or mutations of this gene, which affect NODAL signaling pathway of the neural axis development, can result in holoprosencephaly. Its microforms can range from pituitary abnormality to single central incisor [Gripp et al, 2000;Tatsi et al, 2013;Gondré-Lewis et al, 2015]. Our patient did not have holoprosencephaly, which suggests incomplete penetrance [Hasi-Zogaj et al, 2015].…”

Section: Discussionmentioning

confidence: 53%

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: Discussionmentioning

confidence: 53%

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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show abstract

“…HPE and its microforms have been observed in approximately 12% of these patients [8]. Interestingly, HPE has been linked to GH deficiency and there is evidence that isolated pituitary hypoplasia and pituitary stalk interruption syndrome are milder forms of HPE [6, 9]. Reports have varied on the developmental and behavioral manifestations, although recent reviews estimate an average IQ of 69, with patients ranging from mild impairment to normal functioning [2].…”

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

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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.

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“…Many studies have demonstrated the importance of BMP and FGF pathways to formation of the Rathke's pouch precursors in the essential hypothalamus-pouch connection during pituitary development, and the sonic hedgehog, a ligand of the hedgehog family (SHH), Wnt/beta-catenin and notch pathways to commitment/differentiation of those precursors [reviewed in [2,44]]. In this context, a heterozygous SHH mutation had recently been found in a human female patient with combined pituitary hormone deficiency among other alterations [72]. …”

Section: From Adult Stem To Committed and Differentiated Cells In The Apmentioning

confidence: 99%

Pituitary Cell Turnover: From Adult Stem Cell Recruitment through Differentiation to Death

et al. 2015

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The recent demonstration using genetic tracing that in the adult pituitary stem cells are normally recruited from the niche in the marginal zone and differentiate into secretory cells in the adenopituitary has elegantly confirmed the proposal made when the pituitary stem cell niche was first discovered 5 years ago. Some of the early controversies have also been resolved. However, many questions remain, such as which are the markers that make a pituitary stem cell truly unique and the exact mechanisms that trigger recruitment from the niche. Little is known about the processes of commitment and differentiation once a stem cell has left the niche. Moreover, the acceptance that pituitary cells are renewed by stem cells implies the existence of regulated mechanisms of cell death in differentiated cells which must themselves be explained. The demonstration of an apoptotic pathway mediated by RET/caspase 3/Pit-1/Arf/p53 in normal somatotrophs is therefore an important step towards understanding how pituitary cell number is regulated. Further work will elucidate how the rates of the three processes of cell renewal, differentiation and apoptosis are balanced in tissue homeostasis after birth, but altered in pituitary hyperplasia in response to physiological stimuli such as puberty and lactation. Thus, we can aim to understand the mechanisms underlying human disease due to insufficient (hypopituitarism) or excess (pituitary tumor) cell numbers.

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Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes

Abstract: The data suggest that HPE-related gene mutations are implicated in the etiology of isolated pituitary defects (PSIS or IPH). Alternatively, PSIS or IPH may constitute mild forms of an expanded HPE spectrum.

Cited by 55 publications

References 37 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

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

Pituitary Cell Turnover: From Adult Stem Cell Recruitment through Differentiation to Death

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