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1,325 Possible Causes for Metyrapone Challenge Test Abnormal, Midline Defects

  • Panhypopituitarism

    CONCLUSION: These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.[] We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD.[] Children with congenital midline defects or optic atrophy (which suggests the presence of septo-optic dysplasia) and boys with micropenis due to deficit gonadotropin hormones[]

  • Anterior Pituitary Hypofunction

    It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[] A genetically heterogeneous disorder caused by hypothalamic gnrh deficiency and olfactory nerve defects.[]

  • Hypothalamo-Pituitary Disorder

    Midline Defects Iatrogenic Septo-optic dysplasia (without HESX1 mutation) Exogenous glucocorticoids Pituitary surgery Cranial irradiation Post-treatment for hypercortisolism[] Table 1 Causes of central hypoadrenalism Genetic Tumor Isolated ACTH deficiency Non-functioning pituitary adenoma POMC mutation/cleavage defect Functional pituitary adenoma[]

  • Cushing's Disease

    The management of critically ill Cushing's disease (CD) patients is extremely challenging. Pasireotide is indicated for the treatment of CD patients when pituitary surgery is unfeasible or has not been curative, but no data are available about the use of this drug as pre-operative treatment in critically ill patients.[…][]

    Missing: Midline Defects
  • Pituitary Neoplasm

    Pituitary neoplasms are benign adenomas in the vast majority of cases and can secrete pituitary hormones such as prolactin and growth hormone. Symptoms include a headache and bitemporal hemianopsia in larger tumors, while hormone-induced effects such as acromegaly, galactorrhea, and Cushing's disease may be[…][]

    Missing: Midline Defects
  • Septo-Optic Dysplasia

    Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated[] It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological[] defects.[]

    Missing: Metyrapone Challenge Test Abnormal
  • Pentalogy of Cantrell

    SYNDROME; THAS Cantrell pentalogy Thoraco-abdominal syndrome Midline Defects, X-Linked Cantrell syndrome THAS Cantrell deformity Cantrell Haller Ravitsch syndrome Statements[] Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt[] These associations might either illustrate the previously observed tendency of specific occurrence of certain combinations of midline defects or represent defined subunits[]

    Missing: Metyrapone Challenge Test Abnormal
  • Pituitary-Adrenal Axis Suppression

    BACKGROUND: Hypothalamic pituitary adrenal axis suppression (HPAS) when treating asthmatic children with inhaled corticosteroids (ICS) is thought to be rare. OBJECTIVE: To determine the prevalence of HPAS in asthmatic children treated with ICS and nasal steroids (NS). METHODS: Twenty-six asthmatic children were[…][]

    Missing: Midline Defects
  • Hypertelorism

    OBJECTIVE: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism.[] Author information 1 Department of Medical Genetics, University of Campinas (UNICAMP), Campinas, SP, Brazil. Abstract Midline facial defects with hypertelorism[] OBJECTIVES: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH).[]

    Missing: Metyrapone Challenge Test Abnormal
  • Frontonasal Dysplasia

    Frontonasal dysplasia (FND) is a congenital malformation characterized by hypertelorism, broad nasion with a midline cleft in the bony dorsum, midline defect of the frontal[] Surgical intervention is often required for midline facial defects 9.[] Tuft is the only known mouse model for midline craniofacial defects with an intracranial lipoma.[]

    Missing: Metyrapone Challenge Test Abnormal

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