Associations with multiple pituitary hormone deficiency in patients with an ectopic posterior pituitary gland

Murray, Phillip; Hague, Chris; Fafoula, Olga; Patel, Leena; Raabe, Anna; Cusick, C. F.; Hall, Catherine; Wright, Neville; Amin, Md. Rafiul; Clayton, Peter E.

doi:10.1111/j.1365-2265.2008.03236.x

Cited by 28 publications

(21 citation statements)

References 27 publications

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“…Location of the posterior pituitary gland would also be related to the degree of hypopituitarism, which is not confirmed in this study [19,53]. Moreover, we found no correlation between hormonal dysfunction and history of traumatic delivery or detection of mutations in the transcription factors studied.…”

Section: Discussioncontrasting

confidence: 83%

Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis

Fernández-Rodríguez

Quinteiro²,

Barreiro³

et al. 2011

Neuroendocrinology

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Objectives: To investigate the prevalence of pituitary stalk dysgenesis (PSD) in adult hypopituitary patients by describing the chronology of hormone deficiencies and their potential correlation with traumatic delivery, mutations in genes required for pituitary development and function and pituitary stalk visibility on MRI. Design: Retrospective and prospective study involving 231 hypopituitary patients, including 26 diagnosed with PSD. Clinical, biochemical and radiological studies were reviewed. Molecular analyses of HESX1, LHX4,PROP1 and POU1F1 genes were performed prospectively. Results: PSD was present in 11.2% of hypopituitary patients. PSD was diagnosed before 14 years of age in 46.2% of cases, between 14 and 18 years of age in 23%, and in adulthood in 30.8%. Perinatal complications or gene mutations were present in 26.9 and 4.3% of patients, respectively. At first assessment, 92.3% of patients had growth hormone (GH) deficiency. 26.9% presented as combined pituitary deficiencies and 7.6% as panhypopituitarism. Hormone deficiencies were progressive during follow-up in 84.6%. 96% progressed to multiple deficiencies and 46% to panhypopituitarism. No significant association was found between hormonal dysfunction and previous perinatal damage or breech delivery (p = 0.17), PROP1 mutations (p = 0.26) or pituitary stalk visibility on MRI (p = 0.52). No mutations in POU1F1, HESX1 and LHX-4 genes were detected. Conclusion: In this study, PSD prevalence in adult hypopituitary patients was 11.2%. Typical clinical presentation includes isolated or combined pituitary hormone deficiencies during the pediatric age, which usually progress to combined or complete hypopituitarism in adulthood. Phenotype is highly variable depending on hormone profile and age at onset.

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Section: Discussioncontrasting

confidence: 83%

Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis

Fernández-Rodríguez

Quinteiro²,

Barreiro³

et al. 2011

Neuroendocrinology

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“…In fact, the neuroimaging findings in GHD mainly include the following: first, normal or hypoplastic pituitary gland/empty sella (ES) without anatomical abnormalities of the hypothalamus or pituitary stalk and secondly, moderate-to-severe (pituitary height %3 mm) hypoplastic pituitary gland with ectopic posterior pituitary located anywhere from the median eminence to the distal stalk (1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25). Isolated GHD is more commonly observed in the first category while multiple pituitary hormone deficiencies (MPHD) occur more frequently in the second.…”

Section: Introductionmentioning

confidence: 99%

“…The frequency of these radiological findings and their endocrine spectrum is variable. In particular, MPHD is more frequently associated with ectopic posterior pituitary and anterior pituitary hypoplasia than isolated GHD (2,3,5,13,14,15,17,18,20,21,22,23,24,25). The variability between different studies can be ascribed to the degree of restriction in the studies' diagnostic criteria, to the diagnostic limits of GHD itself (transitory deficits, recovery, false positives, etc.)…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance imaging of CNS in 15 043 children with GH deficiency in KIGS (Pfizer International Growth Database)

Maghnie

Lindberg

Kołtowska-Häggström

et al. 2013

European Journal of Endocrinology

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Objectives: Neuroimaging has become an essential part of the diagnostic process in children with GH deficiency (GHD). The aim of the study was to document the frequency of neuroanatomical abnormalities in a very large cohort of children with GHD and to relate these findings to patient clinical characteristics. Design and methods: Results of magnetic resonance imaging (MRI) were reported in 15 043 of 43 725 children with non-acquired GHD (idiopathic, neurosecretory dysfunction (NSD) and known congenital cause) who were enrolled in KIGS (Pfizer International Growth Database) between 1987 and 2011. Clinical characteristics of patients before GH treatment with normal MRI (idiopathic GHD (IGHD) and NSD) were compared with those of patients with abnormal pituitaries (hypoplasia, empty sella (ES), HME (hypoplastic anterior pituitary, missing pituitary stalk and ectopic posterior pituitary)). Results: Abnormal MRIs were found in 4032 (26.8%) children, within which ES (nZ1178 (7.8%)) and HME (nZ1019 (6.8%)) were the most frequent findings. In 2361 children diagnosed as IGHD or NSD before MRI examination, anatomical abnormalities ((pituitary hypoplasia: nZ974); (HME: nZ459)) were documented. Patients with anatomical abnormalities had more severe characteristics of GHD: normal MRI ! pituitary hypoplasia ! ES ! HME. Conclusions: GHD is associated with a great variety of neuroanatomical abnormalities as identified by MRI. The investigation and evaluation of MRI need to be conducted in a structured mode. There is an association between anatomical and functional abnormalities of the pituitary.

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“…EPP may be detected by magnetic resonance imaging (MRI) and is frequently associated with an absent or thin pituitary stalk and anterior pituitary hypoplasia [1]. Patients with EPP usually display various hormone deficiencies, ranging from isolated growth hormone (GH) deficiency to multiple pituitary hormone deficiency [2,3]. GH stimulation tests are associated with a high false-positive rate of around 25% [4].…”

Section: Introductionmentioning

confidence: 99%

High Frequency of Normal Response during GH Stimulation Tests in Patients with Ectopic Posterior Pituitary Gland: A Source of False-Negative Diagnosis of Pituitary Insufficiency

Kochi¹,

Scuderi²,

Barros

et al. 2016

Horm Res Paediatr

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Aims: To report false-negative normal growth hormone (GH) peak response in patients with ectopic posterior pituitary gland (EPP) identified with a simplified magnetic resonance imaging (FAST1-MRI). Methods: We analyzed 75 EPP patients with short stature and reduced growth velocity. Sagittal-T1 imaging (thickness: 2 mm and gap: 0.2 mm) without gadolinium administration was used. A GH peak of ≥5 ng/ml after clonidine or insulin stimulation was considered normal. Results: Normal GH response was observed in 15 of 75 (20%) patients [mean (SDS) peak = 8.2 (4.1) ng/ml]. Age at diagnosis [6.5 (3.0) years vs. 7.8 (4.1) years], gender (10 males/5 females vs. 44 males/16 females), pubertal stage (14 prepubertal/1 pubertal vs. 51 prepubertal/7 pubertal), and target height [-0.4 (0.6) vs. -0.4 (0.9)] were recorded. The perinatal history did not differ between responsive and nonresponsive patients. There was a trend to more frequent multiple hormone deficiency in nonresponsive when compared with responsive patients [3/15 (20%) and 31/60 (51.7%), respectively (p = 0.055)]. Height at diagnosis was lower in nonresponsive patients (p = 0.042). No significant difference in the IGF1 levels (p = 0.598) was observed between the groups. Conclusion: Normal GH values after stimulation tests do not exclude EPP-associated GH deficiency. A simplified fast acquisition sagittal-T1 MRI protocol investigation included at the initial diagnostic approach is able to prevent misdiagnosis of GH deficiency in patients with short stature.

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Associations with multiple pituitary hormone deficiency in patients with an ectopic posterior pituitary gland

Abstract: In patients with an EPP, adverse antenatal events, size (small) and position (hypothalamic) of the posterior pituitary gland on MRI were associated with MPHD. These findings suggest that adverse factors during pregnancy may be important for the development of an EPP.

Cited by 28 publications

References 27 publications

Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis

Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis

Magnetic resonance imaging of CNS in 15 043 children with GH deficiency in KIGS (Pfizer International Growth Database)

High Frequency of Normal Response during GH Stimulation Tests in Patients with Ectopic Posterior Pituitary Gland: A Source of False-Negative Diagnosis of Pituitary Insufficiency

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