Cases reported "Hypothyroidism"

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1/52. Primary hypothyroidism and pituitary insufficiency.

    A 40-year-old man with primary hypothyroidism and sellar enlargement is described. There was deficiency of all pituitary tropic hormones except TSH which was elevated. TRH stimulation revealed responsiveness of pituitary thyrotropic cells, and thyroxine administration suppressed the elevated TSH. These findings are compatible with either a TSH-producing chromophobe adenoma resulting from primary hypothyroidism or, because of the suppressibility of the TSH secretion, thyrotropic hyperplasia secondary to hypothyroidism maintaining TSH secretion in the face of a non-TSH-secreting pituitary tumor.
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ranking = 1
keywords = sella
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2/52. Inefficiency of the anticoagulant therapy in the regression of the radiation-induced optic neuropathy in Cushing's disease.

    Radiation-induced optic neuropathy is a rare complication (prevalence less than 1%) following radiotherapy of the sellar region. However, the vasculopathy in Cushing's disease predisposes to radiation-induced injury. We report the case of a 24-year-old man with Cushing's disease since he was 16. The hormonal study including bilateral inferior petrosal sinus catheterization diagnosed a pituitary right lesion, but imagiology was always negative. He underwent a transsphenoidal microadenomectomy and the pathological study showed the presence of corticotrophic hyperplasia but no adenoma. Secondary hypothyroidism and hypogonadism as well as permanent diabetes insipidus were diagnosed and because the patient was not cured he underwent a second transsphenoidal total hypophysectomy. After that and because he was still hypercortisolemic, pituitary external irradiation was given in a total dose of 6000 rad. Six months later he developed progressive bilateral visual loss. Cerebral MR revealed focal enhancement of the enlarged optic nerves and chiasm, associated with demyelination areas of the posterior visual pathways. Treatment was tried first with high doses of corticosteroids and later with anticoagulants-heparin EV. 1000 U/h during 7 days followed by warfarin, but unsuccessfully, probably because the patient was already amaurotic at the beginning of the last treatment.
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ranking = 1
keywords = sella
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3/52. Panhypopituitarism associated with diabetes insipidus in a girl with a suprasellar arachnoid cyst.

    We report on a female patient with a large suprasellar arachnoid cyst (3.5 x 2.5 cm) combined with right optic nerve hypoplasia. She developed growth hormone deficiency and hypothyroidism at the age of 8.5 years, adrenal insufficiency at the age of 11 years, diabetes insipidus and hypogonadotropic hypogonadism at the age of 15 years. When last seen at the age of 19 years she was extremely obese ( 5.9 BMI SDS). The endocrine picture suggests that arachnoid cysts might be involved in far more complex hypothalamic-pituitary disturbances than previously thought.
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ranking = 5
keywords = sella
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4/52. Congenital hypopituitarism in a 48-year old adult. Natural course, hormonal study and MRI evidence.

    A case of Congenital hypopituitarism (CH) in an untreated 48 yr-old-man is reported. The hormonal studies demonstrated a panhypopituitarism and MR imaging revealed absence of pituitary stalk, small anterior pituitary remnant on the sella floor and ectopic neurohypophysis at the tuber cinereum. The pattern of hormonal responsiveness suggests that CH encompasses findings typical of primary anterior pituitary disease and those of hypothalamic dysfunction.
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ranking = 1
keywords = sella
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5/52. Cytology of pituitary thyrotroph hyperplasia in protracted primary hypothyroidism.

    Pituitary thyrotroph hyperplasia, a rare cause of pituitary enlargement, is usually associated with protracted primary hypothyroidism. We present here a case of pituitary thyrotroph hyperplasia in a 51 year old woman who was thought to have a pituitary macroadenoma with suprasellar extension. The cytologic investigation of the intraoperative touch preparation identified hyperplastic thyrotrophs, provided the correct diagnosis and helped to limit further aggressive surgical removal of the lesion, which is known to regress after adequate thyroid hormone replacement therapy. This is the first study to describe the cytologic features of pituitary thyrotroph hyperplasia confirmed subsequently by histology, immunocytochemistry and transmission electron microscopy.
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keywords = sella
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6/52. Autoimmune thyroiditis with severe hypothyroidism resistant to the treatment with high peroral doses of thyroxine: case report.

    female patient (42 yr) suffered from autoimmune thyroiditis resulting in severe hypothyroidism. She was treated for several years by district physician with the dose of 150 microg L-thyroxine daily. Since the level of TSH was repeatedly very high and no improvement of clinical signs has been observed, she was referred to the Medical faculty Hospital. Thyroid ultrasound showed remarkable diffuse hypoechogenicity, thyroid scintigraphy showed enlarged thyroid with low 99mTc uptake, TRH test was normal, thin needle biopsy supported autoimmune thyroiditis. X-ray examination showed normal sella turcica and no changes in the pituitary were observed with computer tomography. In spite of increasing the dose of peroral L-thyroxine to 300 microg/d and later to 500 microg/d the clinical status and TSH level did not improve. The patient was originally suspected from malabsorption of thyroxine. However, the test with a large single peroral dose (1000 microg) of L-thyroxine showed a rapid decrease of TSH level (from 126 to 75 mU/l) and increase of total T4 level (from 18 to 64 nmol/l) within 4 hr. Later the patient has been treated with intravenous L-thyroxine (500 microg every 3-4 days for 4 weeks) which resulted in the decrease of TSH level to 10 mU/l and increase of T4 level to 80-100 nmol/l. After that it was concluded that the problem is a poor compliance of the patient who apparently does not actually take the medication, although she always claimed that she is doing so. Referring to some similar cases described in the literature the case was classified as thyroxine pseudomalabsorption. In spite that this problem has been explained to her and her relatives, she refused to take any medication and is consistently neglecting all invitations to further examinations.
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ranking = 5.778449636295
keywords = sella turcica, turcica, sella
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7/52. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

    Inheritable isolated central hypothyroidism (ICH) due to mutations of TSH beta gene has been reported in few patients. For this reason the diagnostic criteria are vague. The disorder is usually characterized by undetectable TSH levels, although low/normal serum TSH, depending on TSH measurement methods, has been documented in some patients. Here we report an Egyptian girl with ICH due to a novel nonsense mutation of the TSH beta gene (Q49X). She was referred at 75 days of age for severe clinical signs of hypothyroidism, whose central origin was documented by normal serum TSH, low free T(4) and free T(3) levels, impaired TSH response to TRH, absence of (99)Tc thyroidal uptake, and antithyroid autoantibodies. Ultrasound revealed a hypoplastic thyroid, whereas magnetic resonance imaging showed a hyperplastic pituitary. All other pituitary hormones, including PRL, were normally secreted. A diagnosis of idiopathic ICH was made, and substitutive L-T(4) treatment was started at 81 days of age. At the age of 7 yr the patient had normal thyroid hormone levels, but was severely mentally retarded. Interestingly, the sella computed tomography scan had completely normalized. At 8 yr of age the patient was reinvestigated after 6-week L-T(4) withdrawal. TSH values were highly variable depending on the measurement method used, whereas extremely high levels of circulating free glycoprotein alpha-subunit were recorded. Despite the fact that mutant TSH beta lacks 60% of the C-terminal amino acid sequence, it forms with the alpha-subunit a heterodimer with preserved immunoreactivity in some TSH measurement methods, but the mutant heterodimer is completely devoid of bioactivity. In conclusion, high circulating free glycoprotein alpha-subunit levels, variable TSH levels, and, possibly, hyperplastic pituitary gland are the hallmark of ICH due to mutations of the TSH beta gene.
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ranking = 1
keywords = sella
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8/52. Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism.

    A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed.
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ranking = 5
keywords = sella
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9/52. Autoimmune hypothyroidism coexisting with a pituitary adenoma secreting thyroid-stimulating hormone, prolactin and alpha-subunit.

    A 44-year-old woman presented to her GP with excessive tiredness. She had positive thyroid microsomal and thyroglobulin autoantibodies and was found to have an elevated serum thyroid-stimulating hormone (TSH) concentration of 8.37 (normal = 0.15-3.5)mU/L and a low normal total thyroxine (T4) of 86 (reference range 60-145)nmol/L. She was rendered symptom free on a dose of 150 microg of thyroxine per day. However, her TSH failed to return to normal, and following a further increase in her thyroxine dose she was referred to the endocrine clinic for further assessment. Her TSH at this stage was 14mU/L, free T4 (fT4) 28 (normal = 10-27)pmol/L and free T3 (fF3) 10 (normal = 4.3-7.6)pmol/L. She denied any problems with adherence to her medication. Her serum prolactin was elevated at 861 (normal = 60-390)mU/L. A pituitary tumour was suspected and an MRI scan showed a macroadenoma of the right lobe of the pituitary, extending into the suprasellar cistern. The tumour was resected trans-sphenoidally. Electron microscopy showed a dual population of neoplastic cells compatible with a thyrotroph cell and prolactin-secreting adenoma. Immunocytochemistry and cell culture studies confirmed the secretion of TSH, prolactin and alpha-subunit. Postoperative combined anterior pituitary function tests did not demonstrate any deficiency of anterior pituitary hormones. A repeat MRI scan showed no significant residual tumour; however, her serum TSH and prolactin levels remained high and she was given a course of pituitary irradiation. This case illustrates the difficulty of diagnosing a TSHoma when it coexists with autoimmune hypothyroidism. We believe the combination of pathologies reported here is unique.
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ranking = 1
keywords = sella
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10/52. Suprasellar tuberculoma presenting with diabetes insipidus and hypothyroidism--a case report.

    Suprasellar tuberculomas are exceptionally rare and are even rarer in children. A case of suprasellar tuberculoma in a five year old male child who presented with diabetes insipidus, hypothyroidism and visual field defect is described. Deranged CSF parameters, imaging findings of a suprasellar rounded, peripherally enhancing lesion with thickening of the pituitary stalk, led to an accurate diagnosis of tuberculosis. The patient responded well to antituberculous treatment and an unnecessary surgery was avoided.
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ranking = 7
keywords = sella
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