1/36. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.Premature ovarian failure occurs in almost 1% of women under age 40. Molecular alterations of the FSH receptor (FSHR) have recently been described. A first homozygous mutation of the FSHR was identified in finland. More recently, we described two new mutations of the FSHR in a woman presenting a partial FSH-resistance syndrome (patient 1). We now report new molecular alterations of the FSHR in another woman (patient 2) who presented at the age of 19 with primary amenorrhea contrasting with normal pubertal development. She had high plasma FSH, and numerous ovarian follicles up to 3 mm in size were evidenced by ultrasonography. Histological and immunohistochemical examination of ovarian biopsies revealed the presence of a normal follicular development up to the antral stage and disruption at further stages. dna sequencing showed two heterozygous mutations: Asp224Val in the extracellular domain and Leu601Val in the third extracellular loop of FSHR. cells transfected with expression vectors encoding the wild type or the mutated Leu601Val receptors bound hormone with similar affinity, whereas binding was barely detectable with the Asp224Val mutant. Confocal microscopy showed the latter to have an impaired targeting to the cell membrane. This was confirmed by its accumulation as a mannose-rich precursor. adenylate cyclase stimulation by FSH of the Leu601Val mutant receptor showed a 12 /-3% residual activity, whereas in patient 1 a 24 /-4% residual activity was detected for the Arg573Cys mutant receptor. These results are in keeping with the fact that estradiol and inhibin B levels were higher in patient 1 and that stimulation with recombinant FSH did not increase follicular size, estradiol, or inhibin B levels in patient 2 in contrast to what was observed for patient 1. Thus, differences in the residual activity of mutated FSHR led to differences in the clinical, biological, and histological phenotypes of the patient.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/36. endocrinology teaching rounds: primary amenorrhea in a 17-year-old woman.This endocrinology teaching rounds documents the evaluation of a 17.7-year-old woman with primary amenorrhea. The normal timing of developmental milestones for young women from adrenarche and pubarche through pubertal maturation and growth is reviewed, as are etiologies for amenorrhea. The differential diagnosis of the problem is developed from the patient's initial visit to diagnosis and treatment. The highlights of the management of this young woman after a diagnosis of craniopharyngioma are also discussed. This clinical case emphasizes the importance of understanding normal developmental landmarks and of detecting aberrant physiology-associated amenorrhea even when screening laboratory tests appear normal so that defects in normal development can be addressed earlier in life.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
3/36. Successful pregnancy in a woman with acromegaly treated with octreotide.OBJECTIVE: To report a successful pregnancy in a 43-year-old woman with acromegaly and treatment during pregnancy with the somatostatin analogue octreotide, to review the physiologic aspects of acromegaly during pregnancy, and to discuss treatment options. methods: A case report is presented, and the current literature is reviewed. RESULTS: In a 40-year-old woman with acromegaly and secondary amenorrhea, menstrual periods resumed after treatment with octreotide. At age 43 years, she became pregnant and decided to continue octreotide therapy because of the relatively large size of the tumor and severe headaches when use of the medication was discontinued. growth hormone and insulin-like growth factor i levels remained normal throughout pregnancy, and a normal full-term infant was born. Several months after delivery, severe cholecystitis developed, and the patient underwent laparoscopic cholecystectomy. CONCLUSIONS: This case report describes the oldest documented woman with acromegaly who has completed a pregnancy and only the second patient treated with octreotide for the entire pregnancy. During a normal pregnancy, placental growth hormone suppresses pituitary growth hormone secretion; in patients with acromegaly, pituitary growth hormone secretion remains autonomous. Treatment of acromegaly with octreotide, bromocriptine, irradiation, or surgical intervention may restore menses and fertility to women of reproductive age. bromocriptine has been used throughout pregnancy without teratogenic effects in many patients. octreotide has been used during the first trimester of pregnancy in seven other women with acromegaly (throughout pregnancy in one of those patients) and for the entire pregnancy in one woman with a thyrotropin-secreting pituitary tumor; no adverse effects were noted. Lanreotide was also used in one patient briefly during the first trimester without adverse consequences. Although the outcomes of the current and previous pregnancies have been favorable, insufficient data are available to recommend the routine use of octreotide in all pregnant women with acromegaly.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
4/36. Cyclic estrogen-progestin hormone therapy as a new therapeutic approach in the treatment of functional alterations of the hypothalamus-pituitary-ovary axis: case reports.amenorrhea is a clinical condition characterized by failure of menarche or by the absence of menstruation for six months in a woman with previous periodic menses. We report a first case of a 30 year-old woman affected by polycystic ovarian disease (PCOD) whose amenorrhea ceased after a 6-month combination treatment with cyclic estradiol-norethisterone acetate. After the withdrawal of the hormone therapy, a stable recovery of periodic menses was observed. We describe a second case of a 23 year-old woman whose amenorrhea was caused by a hypogonadotropic hypogonadism due to a non-functioning pituitary adenoma. After the administration of the previously described therapy both a disappearance of the adenoma and a recover of periodic menses were observed. We hypothesized that the outcomes in our cases could be the consequence of a balancing action induced by the exogenous hormone administration. The exogenous hormones may have reset the feedback between the hypothalamus and pituitary gland through mimicking the physiological hormones pattern of the 28-day cycle.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
5/36. Prolactinomas, dopamine agonists and headache: two case reports.headache is a common problem in patients with pituitary tumours. Small pituitary lesions can cause debilitating headache, suggesting that the size of the pituitary tumour may not be the only causal factor in pituitary-related headache. We present two cases of prolactinoma-associated headache. The first case has a clinical diagnosis of short-lasting unilateral headache attacks with conjunctival injection and tearing (SUNCT). The second case has a clinical diagnosis of hemicrania continua and idiopathic stabbing headache. In each case, the administration of dopamine agonists has led to an exacerbation of symptoms. We review the relevant literature to understand the pathophysiological implications of these cases.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
6/36. Convexity meningioma associated with empty sella presenting as primary amenorrhea.A case of a 30-year-old female seen for a convexity meningioma is presented. history and investigations revealed an empty sella turcica associated with primary amenorrhea. The removal of the convexity meningioma resulted in the disappearance of the amenorrhea and in the rise of plasma gonadotropins. The importance of the consideration of intracranial causes in patients who have a delayed puberty or the absence of a menstrual history is briefly emphasized in the light of literature.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
7/36. Giant somatotrophinoma without acromegalic features: more "quiet" than "silent": case report.OBJECTIVE AND IMPORTANCE: "Silent" somatotrophinomas are very rare, typically large pituitary adenomas that present with mild or no acromegalic features despite positive immunostaining for growth hormone and autonomous (nonglucose-suppressible) growth hormone secretion. Because of this, they may be amenable to treatment with somatostatin analogues. CLINICAL PRESENTATION: We report a giant somatotrophinoma (7 cm in maximal diameter) in a young woman with 6 years of amenorrhea who had no clinical features of acromegaly despite frankly elevated serum insulin-like growth factor 1 level at the time of diagnosis. immunohistochemistry revealed focal strong positive staining for growth hormone in only 10% of the surgical specimen. Mutations in exons 8 or 9 of GNAS1, which are present in 40% of somatotrophinomas, were absent in the surgical specimen. The patient's clinical, biochemical, and radiological presentation is described and is compared with previously reported cases of silent somatotrophinomas. INTERVENTION: Because of the size and visual symptomatology, partial resection was performed via a transcranial approach. External adjuvant beam radiotherapy was used. As insulin-like growth factor 1 levels remained elevated, treatment with somatostatin analogue is being pursued. CONCLUSION: This case represents one of the largest somatotrophinomas described to date, and it demonstrates that serum insulin-like growth factor 1 should be measured even in the absence of acromegalic features in patients presenting with apparently nonsecreting macroadenomas. In addition to surgery and radiotherapy, somatostatin analogues may play an important role in controlling tumor growth.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
8/36. Multiple pituitary hormone deficiency (MPHD) associated with normal height, absent puberty and obesity.We present a 22-year old girl with MPHD and a normal pituitary imaging (MRI) who grew to normal size without GH. She was very obese. At age 19 years replacement therapy with hydrocortisone, L-thyroxine and sex steroids was started. Despite severe growth hormone deficiency according to the provocative tests and decreased IGF I level our patient grew normally. On follow up at age 22 she is 174cm tall.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
9/36. Relationship between chronic raised intracranial pressure and empty sella presenting hormonal disturbances.The role of intracranial pressure in the development and maintenance of the primary empty sella has been pointed out in the literature previously. The hormonal changes and clinical features have been evaluated in a 30 year-old female patient examined for a convexity meningioma and a 20 year-old patient examined for chronic hydrocephalus caused by cured meningitis. Histories and investigations revealed an empty sella turcica associated with primary amenorrhoea and delayed puberty. The removal of the convexity meningioma resulted in loss of amenorrhoea and a rise in plasma gonadotrophins. The establishment of a ventriculo-peritoneal shunt did not bring about any changes in hormonal values and clinical features except the subjective headache disappeared. The importance of consideration of intracranial causes in patients who have delayed puberty or absence of menstrual history is briefly emphasized in light of the literature. Our data also demonstrated a correlation between an increase in intracranial pressure and a deficiency of hormonal secretion by the hypophysis.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
10/36. Primary amenorrhoea in a triple X female.The incidence of trisomy X in the newborn population is estimated to be 1 in 1,000 liveborn females. Most of them have normal physical appearance and puberty. Therefore, the reported number of triple X females in the literature is low. We herein report one patient with triple X chromosomes, primary amenorrhoea and normal intelligence. Steroid hormonal levels, clinical and ultrasound findings were suggestive of ovarian failure/gonadal dysgenesis. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhoea.- - - - - - - - - - ranking = 0.5keywords = size (Clic here for more details about this article) |
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