Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Advances in immunocytochemistry, electron microscopy, cell culture, and molecular techniques have demonstrated that 80 to 90% of the clinically nonfunctioning pituitary adenomas are gonadotrope-derived and recently recognized as gonadotropinomas, which account for as many as 40 to 50% of all pituitary macroadenomas. Patients usually present with mass effects including visual field loss and headache, hypogonadism, and hypopituitarism. Commonly, the tumor is found incidentally. Recently, a few patients with gonadotropinomas were reported to have hormonal hypersecretion syndromes such as ovarian hyperstimulation, testicular enlargement, and precocious puberty. The tumors can be divided into two broad categories: functioning gonadotropinomas with positive immunostaining for follicle-stimulating hormone, leutinizing hormone, and/or their subunits; and nonfunctioning gonadotropinomas or null cell tumors with negative immunostaining for all pituitary hormones but positive nuclear immunostaining for steroid factor-1 or DAX-1 characteristic of gonadotrope differentiation, with evidence of gonadotropin production or gene expression at the mRNA level. Gonadotropinomas are monoclonal in origin but the pathogenesis of these tumors is unknown and factors that stimulate clonal proliferation not yet determined. A new pituitary oncogene, pituitary tumor transforming gene, has recently been found to be overexpressed in about two thirds of these tumors but it is also detected in all other pituitary tumor subtypes. Alterations of tumor hormone receptors and local growth factors may also play a role in the tumor development and/or progression. Transphenoidal surgery remains the principal therapy for the macroadenomas. Radiosurgery using gamma knife, the linear accelerator, or proton beam therapy showed promising results, especially for controlling the residual or recurrent tumors. Medical therapy with somatostatin analogs, dopamine agonists, and gonadotropin-releasing hormone agonists and antagonists are rarely effective in reducing tumor size. Experimental therapy with intraoperative local chemotherapy or potential gene therapy requires further investigation.
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PMID:Gonadotropinomas. 1253 57

We studied the clinical presentation by age of 36 children with craniopharyngioma, and outcome by height and body mass index (BMI). Presenting symptoms included headache (51.4%), vomiting (31%), visual disturbances (22.9%), polyuria and/or polydipsia (17.1%), delayed puberty (19.4%), short stature (13.8%), and precocious puberty (2.7%). Growth deceleration was overlooked, as was diabetes insipidus (actual rate, 52% for both). Delayed puberty was observed in all patients of appropriate age. Mean height standard deviation score (SDS) at admission was significantly lower than mean target height SDS (p = 0.004), while mean final height SDS was similar (p = 0.14). BMI SDS at last follow-up was similar to mean parental BMI SDS. We conclude that although endocrinopathies are present in most patients with craniopharyngioma, they are rarely the reason for referral. While affected prepubertal children have non-endocrine complaints, most adolescents are referred because of delayed puberty. Diabetes insipidus may be more prevalent in craniopharyngioma than previously reported. When patients with hypothalamic obesity are excluded, mean BMI SDS remains within normal range and is influenced mostly by parental BMI SDS.
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PMID:Craniopharyngioma: presentation and endocrine sequelae in 36 children. 1288 Jan 19

Rathke's cleft cysts arise from remnants of Rathke's pouch and are usually found incidentally on MRI or autopsy. In childhood, the most common presenting symptoms of Rathke's cleft cysts are endocrine abnormalities, such as reduced growth hormone secretion, hyperprolactinemia, or diabetes insipidus. Non-specific symptoms, such as headache and visual disturbance, may also occur. Although precocious puberty has occasionally been described in association with suprasellar lesions, such as hamartomas, arachnoid cysts, and craniopharyngiomas, to our knowledge there have been no documented cases secondary to Rathke's cleft cysts. We report here two patients, both of whom presented with precocious puberty, and were found to have Rathke's cleft cysts.
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PMID:Rathke's cleft cyst in two girls with precocious puberty. 1523 14

Isolated sphenoid sinusitis in childhood is a rare clinical entity which is often very difficult to diagnose, hence, it can easily be misdiagnosed. The rarity of this entity is related to the absence at the sinus in children and the lack of development in patients with sinopathology. The first presentation of this disorder might be disguised by another disease. We present a case sphenoid sinusitis in ten years old girl where precocious puberty and slight headache were the main symptoms. Surgical drainage and antimicrobial treatment were administered. Clinical features, diagnostic tools and treatment options for this entity are discussed.
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PMID:Sphenoid sinusitis disguised by precocious puberty. 1565 65

We review the clinical, hormonal and imaging features of 24 consecutive patients with symptomatic Rathke's cleft cysts (RCCs), and assess the long-term effectiveness and complications of transsphenoidal cyst removal. Out of 250 consecutive patients, 24 (10%) underwent endonasal transsphenoidal surgery for RCC; 19 (79%) were women. Symptoms at presentation included headaches (83%), hyperprolactinemia (38%), central hypothyroidism (21%), galactorrhea (13%), diabetes insipidus (13%), IGF-1 deficiency (13%), central adrenal insufficiency (8%) and visual loss (8%). In total, 37% of women had irregular menses and 60% of men sexual dysfunction and hypogonadism. Two girls presented with precocious puberty. Cyst size varied from 7 to 25 mm. Fifteen (60%) had a suprasellar component. Initial and 3-month post-operative imaging revealed complete cyst resection in 23 of 24 patients. Headaches resolved in 65% of subjects and visual loss resolved in both patients who presented with this symptom. Of those presenting with endocrinopathy, 56% had improvement of at least one anterior pituitary axis; two subjects (8%), both with suprasellar RCC, developed a new hormone deficiency post-operatively and two sujects young girls, (8%) had RCC recurrence, one at 36 months after surgery, requiring a second operation, and the other had a small asymptomatic recurrence 6 months after surgery. In conclusion, RCC accounts for 10 % of surgically treated sellar and suprasellar masses. Headache, hyperprolactinemia, menstrual irregularities and sexual dysfunction are common presenting symptoms. Simple cyst removal via a transsphenoidal approach offers a safe and effective treatment. Cyst recurrence may be more common in children.
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PMID:Symptomatic Rathke's cleft cysts: a report of 24 cases. 1576 42

The objective of GnRH agonist treatment in precocious puberty is to block pubertal development, and to reduce the action of sex steroids on bone maturation in order to restore normal long-term growth of the skeleton. Currently available studies show a positive benefit-risk ratio of GnRH analogs in the treatment of precocious puberty. Adult heights obtained are in average greater than those predicted in the absence of treatment and close to the normal target height. The side effects observed during treatment such as headaches, asthenia or hot flushes, are related to sex steroid deprivation and are observed in 20 to 30% of cases. Questions remain concerning the impact of these treatments on intellectual development and body composition. Finally, to assess the impact on fertility, IPSEN laboratories decided to organize a prospective study on patients treated in the 1980-1990s. In pediatrics, a reduction in the number of injections is an important objective to improve compliance. "Depot" formulations with prolonged release over three months, already used in adult indications, represent a useful progress in pediatrics and have recently been assessed. The efficacy and safety of triptorelin acetate (Decapeptyl) administered at a dose of 11.25 mg every trimester for one year were evaluated in a European multicentre open trial including 54 girls and 10 boys. The LH peak during the GnRH test at three months was used as primary end-point. This slow release triptorelin was shown to be effective, similarly to delayed-acting leuprorelin. The auxological effects, in particular on adult height, were not evaluated in this study.
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PMID:[Treatment of precocious puberty by GnRH agonists]. 1630 17

The authors report a case of intratumoral hemorrhage in a pineal region choriocarcinoma during neuroendoscopic third ventriculostomy. A 12-year-old boy who presented with headache and vomiting had precocious puberty. Neuroimagings revealed a pineal region tumor with obstructive hydrocephalus and his serum HCG level was 4,280 mIU/ml. He was diagnosed as having choriocarcinoma and underwent neuroendoscopic third ventriculostomy for obstructive hydrocephalus. There were many tumor vessels observed on the tumor surface, some of which bled subcapsularly. Postoperative CT scan showed the tumor increased in size with the intratumoral hemorrhage. After irradiation and chemotherapy, the tumor disappeared with normalization of serum HCG level. His symptoms improved and no additional neurological deficit was observed in his clinical course. We might infer from this case that the intratumoral hemorrhage was induced by the intracranial pressure change during neuroendoscopic surgery. Perioperative management is very important for avoiding fetal intratumoral hemorrhage.
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PMID:[Intratumoral hemorrhage in choriocarcinoma during neuroendoscopic third ventriculostomy: case report]. 1652 25

Intrasellar arachnoid cyst (IAC) is a very rare pathological lesion occurring in 5 of 1000 autopsy cases, and constitutes 9% of all arachnoid cysts. As a space-occupying mass, IAC may cause headaches, visual disturbances, hypopituitarism, precocious puberty, and the "bobble-head doll" syndrome. The pathogenesis of IAC remains controversial. Magnetic resonance imaging (MRI) is the neurodiagnostic tool of choice to evaluate IAC. The authors presented a 38 year-old woman suffering from severe chronic headaches, dysmenorrhea, and visual disturbance. MRI revealed an intrasellar cystic lesion that had compressed the optic chiasma. Preoperative endocrinological assessment revealed hyperprolactinemia and hypogonadotropic hypogonadism. The patient underwent transsphenoidal surgery. The cyst membrane was opened and clear, serous fluid was evacuated. The postoperative course was complicated by CSF leakage, which was corrected by an autologous fat graft placement. Visual field defects improved immediately after surgery but a transient panhypopituitarism and diabetes insipidus occurred. Postoperative MRI revealed no recurrence of the lesion during the four-year follow-up.
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PMID:[Intrasellar arachnoid cyst. A case report and review of the literature]. 1696 58

Two girls with central precocious puberty (CPP) associated with hypothalamic hamartoma (HH) and non classical form of congenital adrenal hyperplasia (NCAH), are reported. Case 1. The first patient, who showed at age around 4 years the onset of CPP, was submitted in view of some organic lesion to magnetic resonance (MRI) of the brain which documented the presence of HH. The remarkable acceleration of bone age (BA) advanced of 3 SD and some clinical signs of hyperandrogenism suggested the coexistence of NCAH, proved by adrenocorticotropic hormone (ACTH) test and molecular analysis. She resulted carrier of partial 21-hydroxylase deficiency. Case 2. In the second girl with CPP, aged 6.5 years, the remarkable advancement (4 SD) of bone age (BA) alerted to adrenal involvement. ACTH stimulation test and molecular analysis showed NACH due to 21-hydroxylase deficiency. Brain MRI, performed mainly for severe headache, showed the presence of HH. Yearly brain MRI to monitor HH dimensions and neurological examination with EEG, in order to exclude anomalies referable to gelastic epilepsy are advisable, in both cases. The authors' observation emphasizes the need to be careful in young patients with CPP, with fast progression of pubertal development and remarkable BA advancement. The association of CPP with HH and NCAH should be considered, performing not only MRI of the brain, but also ACTH test, beside LHRH test for the diagnosis of CPP. At the authors' knowledge this association has not been reported so far. Further observations are needed to understand if this rare combination is occasional or genetically determined.
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PMID:Precocious puberty with hypothalamic hamartoma and non classical form of congenital adrenal hyperplasia. Report of two cases. 1979 82

Pineal cysts occur in all ages, predominantly in adults in the fourth decade of life. In series of magnetic resonance imaging (MRI) studies, the prevalence of pineal cysts ranged between 1.3% and 4.3% of patients examined for various neurologic reasons and up to 10.8% of asymptomatic healthy volunteers. The diagnosis of pineal cyst is usually established by MRI with defined radiological criteria to distinguish benign pineal cyst from tumors of this area. A recent study demonstrated the findings obtained by transcranial sonography to correspond to those obtained by MRI in the detection of both pineal gland cyst and pineal gland itself, and could be used in the future mainly as follow up examination. Pineal cysts usually have no clinical implications and remain asymptomatic for years. The most common symptoms include headache, vertigo, visual and oculomotor disturbances, and obstructive hydrocephalus. Less frequently, patients present with ataxia, motor and sensory impairment, mental and emotional disturbances, epilepsy, circadian rhythm disturbances, hypothalamic dysfunction of precocious puberty, and recently described occurrence of secondary parkinsonism. Symptomatic cysts vary in size from 7 mm to 45 mm, whereas asymptomatic cysts are usually less than 10 mm in diameter, although a relationship between the cyst size and the onset of symptoms has been proved to be irrelevant in many cases. There is agreement that surgical intervention should be undertaken in patients presenting with hydrocephalus, progression of neurologic symptoms, or cyst enlargement. Tissue sample of the pineal lesion can be obtained by open surgery, stereotaxy and neuroendoscopy.
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PMID:Pineal gland cysts--an overview. 2005 63


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