Neuroimaging Review of Pediatric Endocrinopathies

Neurographics ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 33-58
Author(s):  
F.A. Perez ◽  
D. Werny ◽  
C.L. Roth ◽  
J.N. Wright
Keyword(s):  
Mr Imaging ◽  
Cranial Irradiation ◽  
Hormone Deficiency ◽  
Delayed Puberty ◽  
Genetic Mutations ◽  
Pituitary Hormone ◽  
Imaging Findings ◽  
Inflammatory Conditions ◽  
Clinical Presentations ◽  
Hypothalamic Pituitary Axis

The hypothalamic-pituitary axis regulates many important functions in a child, including growth, puberty, and maintenance of physiologic homeostasis. Dysfunction of the hypothalamic-pituitary axis can produce hormone disturbances that result in various pediatric neuroendocrinopathies, including an isolated growth hormone deficiency, multiple pituitary hormone deficiencies, precocious or delayed puberty, central diabetes insipidus, and elevated pituitary hormone conditions (eg, hyperprolactinemia). Although the hormonal abnormalities in a child with endocrinopathy are typically well characterized with clinical and laboratory evaluations by an endocrinologist, neuroimaging with brain MR imaging can be critical for identifying an underlying etiology to guide prognosis and treatment. Neuroendocrinopathies can be congenital, such as from genetic mutations involved in hypothalamic-pituitary axis development, or acquired, such as with pediatric suprasellar masses, trauma, or inflammatory conditions, or after cranial irradiation. This article reviews the clinical presentations, pathophysiologies, etiologies, and MR imaging findings in children who present with specific types of neuroendocrinopathies.Learning Objective: To review the pathophysiologies, etiologies, and associated neuroimaging findings in the most commonly imaged pediatric neuroendocrinopathies.

Masses, Malignancy, and Mimics: CT and MR Imaging of the Sinonasal Cavity

Neurographics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 80-95
Author(s):  
E.K. Funk ◽  
S.M. Dorros ◽  
A.S. Deconde ◽  
M.A. McDonald
Keyword(s):  
Mr Imaging ◽  
Surgical Management ◽  
Inflammatory Disease ◽  
Learning Objectives ◽  
Disease Spread ◽  
Imaging Features ◽  
Imaging Findings ◽  
Sinonasal Malignancies ◽  
Clinical Presentations ◽  
Disease Staging

Although sinonasal malignancies are relatively rare entities, the frequency of sinus imaging ensures that most radiologists will encounter an unsuspected sinonasal neoplasm at some point in their career. Given that the initial clinical presentations are often nonspecific and may mimic inflammatory rhinosinusitis, it is essential that the practicing radiologist becomes familiar with the specific CT and MR imaging findings that should raise suspicion for an underlying neoplasm. In the course of this review, we highlight the imaging features of a spectrum of sinonasal neoplasms, both benign and malignant, with emphasis on the distinct and complementary roles of CT and MR imaging in the differentiation from common inflammatory disease. We also highlight key anatomic relationships crucial to identifying routes of disease spread with an eye toward disease staging and surgical management.Learning Objectives: To familiarize the practicing radiologist with the key imaging features that should raise suspicion for an underlying sinonasal malignancy and to understand the complementary roles of CT and MR imaging in evaluating routes of locoregional and perineural disease spread.

scholarly journals Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement

2007 ◽  
Vol 28 (7) ◽  
pp. 1369-1370 ◽  
Author(s):  
L.L.F. do Amaral ◽  
R.M. Ferreira ◽  
N.P.F.D. Ferreira ◽  
R.A. Mendonca ◽  
V.H.R. Marussi ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Pituitary Enlargement

Multiple Pituitary Hormone Deficiency: Management of Puberty for Optimal Auxological Results

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
R. Stanhope ◽  
F. De Luca ◽  
H.A. Delemarre-Van de Waal ◽  
A. Liotta ◽  
E. Noijavaara ◽  
...  
Keyword(s):  
Sex Steroids ◽  
Current Practice ◽  
Final Height ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Multiple Pituitary Hormone Deficiency ◽  
Pituitary Hormone Deficiency ◽  
Short Course ◽  
Hypothalamic Pituitary Axis ◽  
Difficult Area

AbstractThe overview in this paper focuses on ways of achieving optimal auxological results in puberty, principally in idiopathic and congenital multiple pituitary hormone deficiency (MPHD), suggested by the co-authors. We agreed that diagnosing gonadotrophin insufficiency/deficiency is difficult in young children and should be repeated in late prepuberty, but a firm diagnosis of MPHD helps avoid endocrine re-testing at the end of growth. The hypothalamic-pituitary axis must be reassessed periodically in evolving endocrinopathies, though current practice varies widely. Optimum age to induce puberty is 11-12 years in girls and 13-14 boys, and sex steroids are the preferred agents. Short-course testosterone to increase micropenis size is advantageous, but inducing early testicular maturation is not known to improve later fertility. There is also little evidence for increasing the dose of GH during puberty, though therapy should continue to final height, and possibly until peak bone mass is achieved. Delaying puberty is an option in septo-optic dysplasia, and minimising the dose of hydrocortisone is crucial in treating ACTH/ cortisol insufficiency. Many unresolved questions remain in this difficult area.

scholarly journals A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency

2020 ◽  
Vol 33 (12) ◽  
pp. 1613-1615
Author(s):  
İbrahim Mert Erbaş ◽  
Ahu Paketçi ◽  
Sezer Acar ◽  
Leman Damla Kotan ◽  
Korcan Demir ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Growth Factor Receptor ◽  
Hormone Deficiency ◽  
Delayed Puberty ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Midline Defects ◽  
Relationship Of ◽  
The Relationship

AbstractObjectivesVariants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in FGFR1 have been presented as a rare cause of this phenotype recently.Case presentationHerein, we report an adopted 16-year-old male presented with delayed puberty and micropenis. He had undergone surgery for bilateral undescended testes in childhood. He was normosmic, and the pituitary imaging was normal. However, hypogonadotropic hypogonadism and growth hormone deficiency were detected, associated with a heterozygous nonsense variant (c.1864 C>T, p.R622X) in FGFR1.ConclusionsFGFR1 variants are among the causes of IHH and KS, which are inherited in an autosomal dominant manner and can be associated with midline defects. It should also be kept in mind that CPHD may be associated with FGFR1 variants in a subject with normal olfactory function.

scholarly journals Baseline Inhibin B and Anti-Mullerian Hormone Measurements for Diagnosis of Hypogonadotropic Hypogonadism (HH) in Boys with Delayed Puberty

2010 ◽  
Vol 95 (12) ◽  
pp. 5225-5232 ◽  
Author(s):  
Régis Coutant ◽  
Estelle Biette-Demeneix ◽  
Claire Bouvattier ◽  
Natacha Bouhours-Nouet ◽  
Frédérique Gatelais ◽  
...  
Keyword(s):  
Sertoli Cells ◽  
Early Stage ◽  
Hypogonadotropic Hypogonadism ◽  
Inhibin B ◽  
Hormone Deficiency ◽  
Delayed Puberty ◽  
Pituitary Hormone ◽  
Future Fertility ◽  
Testis Volume ◽  
Stage 1

Context: The diagnosis of isolated hypogonadotropic hypogonadism (IHH) in boys with delayed puberty is challenging, as may be the diagnosis of hypogonadotropic hypogonadism (HH) in boys with combined pituitary hormone deficiency (CPHD). Yet, the therapeutic choices for puberty induction depend on accurate diagnosis and may influence future fertility. Objective: The aim was to assess the utility of baseline inhibin B (INHB) and anti-Mullerian hormone (AMH) measurements to discriminate HH from constitutional delay of puberty (CDP). Both hormones are produced by Sertoli cells upon FSH stimulation. Moreover, prepubertal AMH levels are high as a reflection of Sertoli cell integrity. Patients: We studied 82 boys aged 14 to 18 yr with pubertal delay: 16 had IHH, 15 congenital HH within CPHD, and 51 CDP, as confirmed by follow-up. Subjects were genital stage 1 (testis volume <3 ml; 9 IHH, 7 CPHD, and 23 CDP) or early stage 2 (testis volume, 3–6 ml; 7 IHH, 8 CPHD, and 28 CDP). Results: Age and testis volume were similar in the three groups. Compared with CDP subjects, IHH and CPHD subjects had lower INHB, testosterone, FSH, and LH concentrations (P < 0.05), whereas AMH concentration was lower only in IHH and CPHD subjects with genital stage 1, likely reflecting a smaller pool of Sertoli cells in profound HH. In IHH and CPHD boys with genital stage 1, sensitivity and specificity were 100% for INHB concentration of 35 pg/ml or less. In IHH and CPHD boys with genital stage 2, sensitivities were 86 and 80%, whereas specificities were 92% and 88%, respectively, for an INHB concentration of 65 pg/ml or less. The performance of testosterone, AMH, FSH, and LH measurements was lower. No combination or ratio of hormones performed better than INHB alone. Conclusion: Discrimination of HH from CDP with baseline INHB measurement was excellent in subjects with genital stage 1 and fair in subjects with genital stage 2.

scholarly journals Glucagon Suppression of Ghrelin Secretion Is Exerted at Hypothalamus-Pituitary Level

2006 ◽  
Vol 91 (9) ◽  
pp. 3528-3533 ◽  
Author(s):  
A. M. Arafat ◽  
F. H. Perschel ◽  
B. Otto ◽  
M. O. Weickert ◽  
H. Rochlitz ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Healthy Subjects ◽  
Suppressive Effect ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Insulin Levels ◽  
Hypothalamic Pituitary Axis ◽  
Pituitary Lesion ◽  
Ghrelin Secretion

Abstract Context: The mechanisms underlying the well-known glucagon-induced satiety effect are unclear. Recently, we showed that glucagon induces a remarkable decrease in the orexigenic hormone ghrelin that might be responsible for this effect. Objective: The objective of this study was to evaluate the putative role of the hypothalamic pituitary axis in glucagon’s suppressive effect on ghrelin secretion. Design, Subjects, and Methods: Prospectively, we studied the endocrine and metabolic responses to im glucagon administration in 22 patients (16 males; age, 21–68 yr; body mass index, 28.1 ± 1.1 kg/m2) with a known hypothalamic-pituitary lesion and at least one pituitary hormone deficiency. Control experiments were performed in 27 healthy subjects (15 males; age, 19–65 yr; body mass index, 25.5 ± 0.9 kg/m2). Results: The suppression of ghrelin by glucagon measured as area under the curve240min was significantly greater in controls when compared with patients (P < 0.01). Although there was a significant decrease in ghrelin in controls (P < 0.001), ghrelin was almost unchanged in patients (P = 0.359). Changes in glucagon, glucose, and insulin levels were comparable between both groups. Conclusions: We show that the hypothalamic-pituitary axis plays an essential role in the suppression of ghrelin induced by im glucagon administration. Glucagon significantly decreases ghrelin levels in healthy subjects. However, in the absence of an intact hypothalamic-pituitary axis, this effect was abolished. The mechanisms responsible for our observation are unlikely to include changes in glucose or insulin levels.

Beware of the Brain Stem:Craniocervical Dural Arteriovenous Fistulas. Case Series and Literature Review

Neurographics ◽  
2019 ◽  
Vol 9 (6) ◽  
pp. 349-357
Author(s):  
M.A. McDonald ◽  
S.E. Olson ◽  
P. Abraham ◽  
J. Handwerker
Keyword(s):  
Literature Review ◽  
Mr Imaging ◽  
Case Series ◽  
Imaging Findings ◽  
Arteriovenous Fistulas ◽  
Timely Diagnosis ◽  
Clinical Presentations ◽  
Wide Range ◽  
Dural Arteriovenous Fistulas ◽  
The Brain

Craniocervical dural arteriovenous fistulas are rare but clinically important entities that are potentially treatable but often misdiagnosed given their wide range of clinical presentations and often nonspecific findings on CT and MR imaging. Although DSA remains the criterion standard for diagnosis, the present case series highlights imaging findings of craniocervical dural arteriovenous fistulas and potential mimics to aid the practicing radiologist in a timely diagnosis.

scholarly journals Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg→Cys at Codon 120 (R120C)1

1998 ◽  
Vol 83 (10) ◽  
pp. 3727-3734 ◽  
Author(s):  
Christa Flück ◽  
Johnny Deladoey ◽  
Kuno Rutishauser ◽  
Andrée Eblé ◽  
ULRICH Marti ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Failure To Thrive ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Ames Dwarf ◽  
Hypothalamic Pituitary Axis ◽  
Prop1 Gene

As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). A mutation in a novel, tissue-specific, paired-like homeodomain transcription factor, termed Prophet of Pit-1 (PROP1), has been identified as causing the Ames dwarf (df) mouse phenotype, and thereafter, different PROP1 gene alterations have been found in humans with CPHD. We report on the follow-up of two consanguineous families (n = 12), with five subjects affected with CPHD (three males and two females) caused by the same nucleotide C to T transition, resulting in the substitution of Arg→Cys in PROP1 at codon 120. Importantly, there is a variability of phenotype, even among patients with the same mutation. The age at diagnosis was dependent on the severity of symptoms, ranging from 9 months to 8 yr. Although in one patient TSH deficiency was the first symptom of the disorder, all patients became symptomatic by exhibiting severe growth retardation and failure to thrive, which was mainly caused by GH deficiency (n = 4). The secretion of the pituitary-derived hormones (GH, PRL, TSH, LH, and FSH) declined gradually with age, following a different pattern in each individual; therefore, the deficiencies developed over a variable period of time. All of the subjects entered puberty spontaneously, and the two females also experienced menarche and periods before a replacement therapy was necessary.

Hypopituitarism in children with cerebral palsy

2016 ◽  
Vol 102 (6) ◽  
pp. 559-561 ◽  
Author(s):  
Suma Uday ◽  
Nick Shaw ◽  
Ruth Krone ◽  
Jeremy Kirk
Keyword(s):  
Cerebral Palsy ◽  
Standard Deviation Score ◽  
Hormone Deficiency ◽  
Delayed Puberty ◽  
Pituitary Hormone ◽  
Posterior Pituitary ◽  
Poor Growth ◽  
Children With Cerebral Palsy ◽  
Mri Scans ◽  
Posterior Pituitary Gland

Poor growth and delayed puberty in children with cerebral palsy is frequently felt to be related to malnutrition. Although growth hormone deficiency is commonly described in these children, multiple pituitary hormone deficiency (MPHD) has not been previously reported. We present a series of four children with cerebral palsy who were born before 29 weeks gestation who were referred to the regional endocrinology service, three for delayed puberty and one for short stature, in whom investigations identified MPHD. All patients had a height well below −2 standard deviation score (2nd centile) at presentation and three who had MRI scans had an ectopic posterior pituitary gland. We therefore recommend that the possibility of MPHD should be considered in all children with cerebral palsy and poor growth or delayed puberty. Early diagnosis and treatment is essential to maximise growth and prevent associated morbidity and mortality.

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