| multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas. Here, we report a patient with a history of insulinoma who developed secondary infertility as a further symptom of the disease. When he was first examined at the age of 36 years, he complained of weakness, reduced libido and impotence. Laboratory evaluation revealed non-obstructive azoospermia and hyperprolactinaemia. In contrast to sexual activity and serum prolactin, semen quality did not significantly respond to bromocriptine therapy. During follow-up, a growing pituitary adenoma caused acromegaly with elevated serum concentrations of growth hormone, insulin-like growth factor 1 (IGF-1), and prolactin. After microsurgery of the tumour at the age of 44 years, sperm concentration persistently increased up to 5.6 x 10(6)/ml. In accordance with the clinical diagnosis of MEN1, dna sequencing revealed a mutation in exon 2 of the menin gene which results in a truncated, inactive protein product. In conclusion, MEN1 with pituitary lesions may cause severe hypogonadism and infertility. Both hyperprolactinaemia and overproduction of growth hormone and IGF-1 seem to be involved in testicular dysfunction in the present case. The possible role of menin in the testis, however, remains to be elucidated. ( info) |
2/212. Unilateral gestational macromastia--an unusual presentation of a rare disorder. Macromastia (mammary gigantism) is an uncommon clinical entity. Macromastia occurring during pregnancy (gestational macromastia) is rare. A case of unilateral gestational macromastia is reported which required reduction mammoplasty. We documented hyperprolactinaemia in the patient. This case report is particularly interesting because, to our knowledge, no such case has previously been reported. ( info) |
3/212. Unusual premature ovarian failure with hypogonadotropic hyperprolactinemia and 46, XX, 13ph . A 34-year-old woman with secondary amenorrhea is reported. She had a 30-day regular cycle menstruation from 12 to 24 years old. Her hormonal examination showed hypogonadotropic, secondary ovarian functional defect, and hyperprolactinemia. Her chromosomal arrangement was 46, XX, 13ph which is the elongation of 13p. ( info) |
4/212. Nonfunctioning pituitary macroadenoma presenting with mild hyperprolactinemia and amenorrhea. OBJECTIVE: To describe a patient with a clinically nonfunctioning pituitary macroadenoma who presented with mild hyperprolactinemia and amenorrhea. DESIGN: Case report. SETTING: Tertiary care medical facility. PATIENT(S): A 44-year-old woman with a 6-month history of amenorrhea. INTERVENTION(S): Pituitary testing, magnetic resonance imaging of the sella turcica, and transsphenoidal surgery. MAIN OUTCOME MEASURE(S): Pituitary function testing, magnetic resonance imaging, and return of menstrual cycles. RESULT(S): Baseline laboratory data revealed a serum prolactin level of 34 ng/mL (normal range, 3-20 ng/mL), normal thyroid function test results, and an FSH level of 6.7 mIU/mL. A second fasting prolactin level was 48 ng/mL. magnetic resonance imaging of the sella turcica revealed a pituitary macroadenoma measuring 1.4 x 3.2 cm. Further testing of baseline pituitary function revealed normal findings. The patient underwent an uncomplicated transsphenoidal resection of the pituitary tumor and maintained normal pituitary function. Pathologic evaluation revealed a pituitary adenoma that stained positive for FSH and focally for the alpha subunit. The adenoma stained negative for GH, prolactin, ACTH, LH, and TSH. CONCLUSION(S): This patient had a nonsecreting gonadotroph macroadenoma that resulted in hypogonadotropic hypogonadism along with mild hyperprolactinemia, presumably secondary to interruption of normal transport down the pituitary stalk. ( info) |
5/212. Three cases of macroprolactinaemia. A woman with hirsutism but otherwise symptom-free was found to have a raised serum prolactin and a pituitary microadenoma. The hyperprolactinaemia persisted despite bromocriptine therapy and subsequent pituitary surgery, which yielded a non-functioning adenoma. After a further 15 years with persistent hyperprolactinaemia but no symptoms, macroprolactinaemia was diagnosed. Such cases might account for part of the failure rate of pituitary microsurgery for prolactinoma. Testing for macroprolactinaemia is advisable in a woman with hyperprolactinaemia, especially if her ovulatory cycle is normal. Two other cases are reported in which macroprolactinaemia was associated with menstrual disturbances and other hormonal effects: in these, treatment with dopamine agonists suppressed the hyperprolactinaemia and restored normal menstrual cycles. ( info) |
6/212. Hormonal side effects in women: typical versus atypical antipsychotic treatment. Neuroleptic-induced hyperprolactinemia can cause menstrual disorders, impaired fertility, galactorrhea, and sexual dysfunction, as well as hypoestrogenism secondary to disruption of the hypothalamic-pituitary-ovarian axis. The development of the prolactin-sparing atypical antipsychotic drugs offers prevention and resolution of these adverse reactions. Thus far, this property of the new medications has received insufficient clinical attention. The authors use case vignettes to discuss assessment and management of clinical situations that arise as a result of antipsychotic-induced endocrine changes. ( info) |
7/212. Osteopenia in children and adolescents with hyperprolactinemia. Three patients with hyperprolactinemia due to pituitary adenomas (two patients) or empty sella (one patient) and osteopenia are described. Their ages at presentation ranged from 8 to 17 years. Each patient was treated with cabergoline. serum prolactin levels became normal in all patients within one month. bone density and pubertal stage improved after 12 months of treatment. ( info) |
8/212. galactorrhea may be clue to serious problems. patients deserve a thorough workup. Three cases of nonphysiologic hyperprolactinemia associated with pituitary disease evidenced by galactorrhea are presented. Two patients had significant pituitary disease associated with low-level prolactin elevations. The third patient had only a history of infertility and expressible galactorrhea on examination. This patient was found to have high prolactin levels and a locally invasive pituitary tumor. physicians need to be aware of the serious conditions associated with galactorrhea so that appropriate diagnostic studies can be done and treatment instituted. ( info) |
9/212. Symptomatic hypophyseal granular cell tumour: endocrinological and clinicopathological analysis. We report a case of a hypophyseal granular cell tumour (GCT) presenting with visual failure and hyperprolactinaemia (serum prolactin level, 274 ng/ml; normal, < 10). Magnetic resonance images demonstrated an intrasellar mass with anterosuperior extension. As the patient had chronic renal failure (CRF) and hyperprolactinaemia is frequent in CRF patients, a firm preoperative diagnosis of prolactinoma could not be made. Transsphenoidal removal of the tumour resulted in improvement of both vision and serum prolactin. Histopathological analysis of the surgical specimen revealed GCT. A cell kinetic study, the first such report for this type of tumour, revealed a relatively high Ki-67 staining index of 3.2%. On electron microscopy, numerous intracytoplasmic granules with various electron densities were demonstrated. Moreover, cell-processes extending from the granule-rich cytoplasm contained intracytoplasmic filaments but few granules, suggesting that the filament-rich cells, which are occasionally seen in GCT tissues, are essentially identical to the granule-rich cells in origin. ( info) |
10/212. Delayed puberty associated with hyperprolactinemia caused by pituitary microadenoma. Primary amenorrhea caused by the hyperprolactinemia is a rare condition characterized by the onset of thelarche and pubarche at appropriate ages but arrest of pubertal development before menarche. hyperprolactinemia might be found in a few women with primary amenorrhea, yet relevant experience has apparently not been reported. We report a 16-year-old patient with hyperprolactinemia caused by a pituitary microadenoma. Her only symptom was delayed puberty without galactorrhea. bromocriptine therapy was useful in order to induce the ovulation and cause the menarche. ( info) |