[All is endocrinology].
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Dehydroepiandrosterone↗
Biomedical subjects
Fulgencio Gomez
Publications and source records attributed to Fulgencio Gomez.
Apoplexy in pituitary macroadenoma: eight patients presenting in 12 months.
Pituitary apoplexy is an ill-defined clinical entity. Some authors include hypoxic pituitary infarction, even in the absence of tumor after hemorrhagic delivery, whereas others apply this term strictly to hemorrhage within a pituitary adenoma. We conducted the present study to establish the prevalence, clinical characteristics, and outcome of pituitary apoplexy, defined as an endocrine crisis characterized by acute intense headache, with or without altered consciousness, rapid development of visual or motor ocular disorders, and pituitary failure, associated with a large pituitary adenoma. We describe 8 consecutive patients (1 woman and 7 men, aged 29-66 yr) presenting over 12 months with pituitary apoplexy. We reviewed patient charts for symptoms, imaging characteristics, hormonal data, management, pathologic findings, and outcome. We examined our pituitary tumors database for cases of macroadenoma without apoplexy occurring during the same period. In 5 patients, potential precipitating factors were present. In 6 patients (3 nonsecreting tumors, 1 free-alpha-subunit-secreting tumor, 1 growth hormone and prolactin-secreting tumor with acromegaly, and 1 prolactinoma), no pituitary disease was suspected before the acute event, representing 19% of newly diagnosed pituitary macroadenomas during the same period of time, a higher proportion than expected from our previously published series. The 2 other patients had known pituitary macroadenomas, a nonsecreting tumor and a prolactinoma on dopamine agonist therapy. Pituitary insufficiency at diagnosis included adrenal failure in 4 patients. Transsphenoidal tumor removal was performed 3-9 days after the onset of symptoms (mean, 5.3 d) in 7 of the 8 patients. Pathologic analysis disclosed tumor hemorrhage in 4 cases, ischemic necrosis in 2, and ischemia after intrasellar hemorrhage in 1. Preoperative magnetic resonance imaging was more sensitive than computed tomography for identifying hemorrhage. The newly diagnosed prolactinoma was treated with dopamine agonist. Complete neuro-ophthalmic recovery was observed in all cases, but only 2 patients displayed normal pituitary function on follow-up. The other 6 patients required long-term hormone replacement therapy. These data show that early surgical decompression prevents persistent neuro-ophthalmic deficit, but does not prevent persistent pituitary insufficiency. Moreover, published data indicate that the efficacy of surgery for the relief of neuro-ophthalmic symptoms decreases with increasing syndrome duration. Our data confirm that apoplexy occurs most often as the inaugural manifestation of pituitary macroadenoma, and suggest a recent increase of cases of apoplexy in our area.
Adenoma↗
Non-functioning pituitary carcinoma.
Null-cell carcinomas of the pituitary are extremely rare. We describe a 41-year-old woman with a large adenohypophyseal neoplasm presenting as a primary nonfunctioning tumor without pituitary insufficiency. Signs of mass effect with progressive unilateral ocular motility disorders and anterior pituitary failure developed rapidly. Histopathological examination of the trans-sphenoidally removed tumor showed a primary pituitary null cell tumor with high mitotic index. Pituitary carcinoma was suspected because of rapid relapse of ocular motility disorders and of intra-sellar tumor growth after surgery. Radiotherapy of the sellar and parasellar area with a total dose of 59.4 Gy was performed, achieving marked tumor reduction and a significant improvement of ocular motility disorders. However, 6.5 months after presentation the patient rapidly declined and died of carcinomatous meningitis. Less than 100 pituitary carcinomas have been published so far, most of them as single-case reports, and endocrine, immunohistochemical, and ultrastructural data have not been described in the majority of cases. At presentation, there are no specific symptoms that allow to distinguish benign from malignant tumor. Prognosis is poor, since no curative treatment has been established, but aggressive surgery and radiotherapy has been recommended. Our case highlights the poor prognosis of nonfunctioning pituitary carcinomas.
Adult↗
A pregnant woman with de novo polyuria-polydipsia and elevated liver enzymes.
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Adult↗
Pharyngeal pituitary non-functioning adenoma with normal intra-sellar gland: massive tumor shrinkage on octreotide therapy.
OBJECTIVE: Functioning or non-functioning ectopic tumors may develop from pharyngeal pituitary remnants. They constitute <1% of all obstructive pharyngeal masses and they have a strong tendency to bleed. We report a case of a non-functioning ectopic pituitary adenoma of the rhino-pharynx studied over a long-term somatostatin analog treatment. PATIENT AND TREATMENT: A 60-Year-old woman presented with severe posterior epistaxis. She had complained of nasal obstruction for the past 2 Years. Magnetic resonance imaging (MRI) and endoscopic examination revealed a 2 cm exophytic, bleeding mass in the cavum, which was judged inoperable, and a biopsy was performed. On immunostaining, tumor cells were positive for pancytokeratins MNF 116 and C11, epithelial membrane antigen, chromogranin and neuron-specific enolase (NSE), and negative for synaptophysin, desmin, actin, estrogen and progesterone receptors, all anterior pituitary hormones and human chorionic gonadotropin. Blood levels of the above hormones and tumor markers were normal, except for a moderate elevation of NSE (33.8 microg/l, normal value <12 microg/l). It was concluded that this was a non-functioning pituitary adenoma of the rhino-pharynx. MRI showed a normal intra-sellar pituitary gland, including the normal bright signal of the posterior lobe. Somatostatin receptor scintigraphy (SRS) disclosed intense tracer uptake in the tumor, indicating high somatostatin receptor content. There was also an intense uptake in the intra-sellar pituitary. Therapy with long-acting octreotide was started, 20 mg per Month i.m. RESULTS: The patient has been on octreotide for the last 12 Months. Nasal obstruction rapidly subsided and bleeding did not recur. Repeated endoscopic examinations showed rapid tumor reduction, the mass shrinkage being almost complete at 3 Months. This was confirmed by MRI, while SRS showed markedly decreased uptake in the residual tumor and the intra-sellar pituitary, and NSE became normal. CONCLUSION: Pharyngeal pituitary remnant adenomas are rare, but they must be considered in the differential diagnosis of bleeding or obstructive masses of the rhino-pharynx. In this case, the positive SRS influenced the choice of octreotide, as an alternative to surgery. As we show for the first time in this location, octreotide can exert prolonged and marked anti-tumoral effects in non-functioning adenoma.
Adenoma↗
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 1] is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis. Inactivating mutations of DAX1 result in the X-linked form of AHC with associated hypogonadotropic hypogonadism. AHC usually reveals itself as adrenal failure in early infancy, although a wide range of phenotypic expression has been reported. We describe a patient who was diagnosed with adrenal failure at 6 wk of age, but who experienced recovery of adrenal function of several months' duration later in infancy. He subsequently failed to undergo puberty because of hypogonadotropic hypogonadism of pituitary origin, and he was also diagnosed with schizophrenia in early adulthood. Molecular genetic analyses revealed a complex rearrangement in DAX1, including a 2.2-kb deletion spanning the entire second exon and a small 27-bp insertion. The putative protein encoded by this mutated gene is 429 amino acids long. The initial 389 residues probably correspond to the wild-type DAX-1 sequence, whereas the last 40 amino acids are presumably completely unrelated, being transcribed from the intronic sequence adjacent to exon 1. In vitro functional analyses confirm the absence of repressor activity exerted by such mutant protein. These studies expand the genotypic and phenotypic spectrum of DAX-1 insufficiency in humans.
Adolescent↗