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= Pituitary Stalk Interruption Syndrome: Annotated Bibliography =

Pituitary Stalk Interruption Syndrome: Etiology and Clinical Manifestations. 2019.
This review article will be a useful resource because it discusses normal and abnormal pituitary development, as well as the most common signs and symptoms experienced by someone with PSIS. The article starts with a description of normal pituitary development: the embryological origins of the tissue, and briefly mentions the involvement of different signaling cascades. It then discusses the first reported case of PSIS, and classic symptoms associated (thin or interrupted pituitary stalk, ectopic posterior pituitary gland, and anterior pituitary hypoplasia or aplasia. Defects and abnormalities not directly in the pituitary gland are also discusses, like a variety of midline defects and holoprosencephaly. While the exact causes of PSIS are still not entirely certain, the article summarizes current belief that suspects both certain genetic mutations (most commonly PROP1, HESX1, OTX1 and OTX2, PAX6, ARNT2, PROKR2, and LHX4 among others), as well as perinatal events like breech delivery. The article summarizes the current conversation suggesting that some cases may be X-linked, while others may have polygenic inheritance, and still others are spontaneous. Finally, the article discusses the prevalence of PSIS, the most common phenotypes and related hormone deficiencies, and suggests MRI as a key tool for early detection and intervention.

Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis. 2017.
This review confirms much of the information from the previous source, and adds some additional information regarding clinical symptoms, the suspected genetic abnormalities, and the use of MRI as a diagnostic tool. The researchers discuss the most common symptoms by age. Neonates are expected to present with genital abnormalities like micropenis and cryptorchidism, hypoglycemia, and jaundice. In childhood, the most common sign is growth retardation in height and weight. In adolescence, delayed puberty and lack of secondary sex characteristics. More noticeably, some patients have midline defects, or other extra-pituitary abnormalities like renal issues, Fanconi anemia, Pallister-Hall syndrome, and Currarino Stilling-Duane syndrome. This article also has some potentially useful MRI Images, clearly comparing a normal, thin, and absent pituitary gland, and correlates pituitary morphology with the severity of the PSIS symptoms. This article also elaborates on some other perinatal and environmental factors, in addition to breech delivery, that might be implicated in the etiology of PSIS. It is still unclear within the literature whether head trauma during delivery, pituitary stalk ischaemia, or even pituitary stalk rupture are potential causes of PSIS, or whether PSIS causes these conditions to develop. Genetic causes may causes mutations in the HESX1, LHX4, PROKR2, and TGIF, among others. Interestingly, GPR161 and CDON, both also implicated in PSIS, are integral in signaling pathway regulated by the Sonic Hedgehog (Shh) gene. Other signaling pathways like Wnt and Notch may also be involved.

Pituitary Stalk Interruption Syndrome: Report of Two Cases and Literature Review. 2017.
This source was useful for the information pertaining to the literature review. The classical triad of morphological findings - thin or absent pituitary stalk, anterior pituitary hypoplasia, and ectopic posterior pituitary - was confirmed by this article. Furthermore, many of the same genetic abnormalities were implicated: HESX1, OTX2, LHX3 and LHX4, PROKR2, GPR161, CDON, TGIF, and SOX2 and SOX3 (X-linked) among others. This article more closely links each mutation or genetic abnormality to a specific phenotypic outcome. Phenotypic features include hypoglycemia, micropenis, jaundice, cryptorchidism, short stature, and the progressive development of other pituitary-hormone-related deficiencies. The researchers affirm the utility of MRI and describe the normal and abnormal morphology that might be expected at birth, during childhood, and in adulthood. Finally, this article makes further recommendations that patients be screened early, and be followed in the long term, as additional pituitary deficiencies tend to develop over time

An Update in the Genetic Aetiologies of Combined Pituitary Hormone Deficiency. 2016.
The authors of this article once again corroborate and conform information regarding genetics found in the other articles, regarding genes like ''PIT1, PROP1, and HESX1. GPR161'' is thought to be expressed widely during embryonic development, and is a key player in the Shh gene pathway. Mutations in this gene are associated with hypoglycemia, diabetes insipidus, and TSH and GH deficiency. ARNT2 mutations are related to corticotroph, thyroid, GH, and gonadotroph deficiency, as well as the classic MRI phenotypes. LHX3 mutations are implicated in PSIS, and are linked to ACTH deficiency and auditory issues. CHARGE syndrome, which stands for Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies, exemplifies some of the other extrapituitary defects that are associated with PSIS.

The Use of Neuroimaging for Assessing Disorders of Pituitary Development. 2012.
This review article, although slightly outside the desired time range, provides insight into the uses of MRI to evaluate endocrine dysfunction. The pros and cons of MRI use are discussed. Benefits of MRI use include being able to clearly distinguish the anterior and posterior lobes. This ability seems especially important given some of the characteristic phenotypes outlined in the PSIS diagnostic guidelines. Other advantages include being able to visualize structures in multiple planes and angles, characterize the tissue present, and do so in a noninvasive way. Some drawbacks include the difficulties of immobilizing the younger patient population without anesthesia, which could alter the MRI taken. MRI scans are also not suitable for patients with certain co-existing health conditions or implants. In cases where MRI is not possible, the article also describes the use of CT scans, using this technique to take coronal and sagittal images. Finally, this articles reviews normal and abnormal pituitary anatomy, and could be an excellent resource for images of normal and abnormal scans.

Genetic Regulation of Pituitary Gland Development in Human and Mouse. 2009.
This article, while also slightly outside the desired time-range, is unique in that it discusses embryologic origins of the pituitary, and where each essential element comes from throughout development. The article discusses the development of each type of trophic cell, including the thyrotrophs, corticotrophs, melanotrophs, somatotrophs, lactotrophs, and gonadotrophs. This article also delves into many of the implicated genes for pituitary development, and will serve as a good way to cross-verify this information from other articles.

Pituitary Stalk Interruption Syndrome. 2017.
This source, from the NIH's Genetic and Rare Diseases Information Center, is one that the original Wikipedia article on PSIS had cited. The author of the original article used some of the information in this source, like descriptions of the classic diagnostic triad, aspects of patient presentation and common symptoms seen upon diagnosis, and advice for managing the disease. However, the author's language in the original article closely mimics the information found in these sources. My goal will be to fill in the rest of the information found in the source, and correct some cases of potential plagiarism in the original article by rephrasing the information and bolstering it with other sources. Aside from what was already mentioned in the original article, this source may also contribute to information about the genetics behind PSIS. FInally, this source directs users to two additional resources: Orphanet and the Human Phenotype Ontology project, both of which I will also explore.

Pituitary Stalk Interruption Syndrome. 2010.
This public source, another one used in the original PSIS Wikipedia article, also has some useful information about PSIS. The author of the original article also mimicked much of the language from this source, so my goal will again be to update the article with new information, and rephrase the existing information to avoid plagiarism. The current (original) article on PSIS discusses the epidemiology, and prognosis of PSIS pretty well. However, it does not much mention some aspects of the clinical description, etiology, diagnostic methods, or management and treatment, which can still be added to the updated article in a way that avoids potential plagiarism.

Pituitary Stalk Interruption Syndrome. 2020.
This site provides an overview of PSIS, and then compiles a list of the most common symptoms associated with the disorder as reported in the literature to date. This resource proves useful as it is a compilation of all of the information found in literature.