Pheochromocytoma in a pregnant woman with multiple endocrine neoplasia type 2a.

Pheochromocytoma is a rare cause of hypertension. Its coexistence with pregnancy is exceptional and laparoscopic removal has rarely been reported. We describe the case of a 34-year-old woman with multiple endocrine neoplasia type 2a (MEN 2a) with adrenal pheochromocytoma diagnosed in the 6th week of pregnancy. After pretreatment with phenoxybenzamine, a successful transperitoneal laparoscopic adrenalectomy was performed in the twentieth week of gestation. The management of pheochromocytoma in pregnancy and the indications for laparoscopic surgery in pregnant patients are discussed.     

Cerebral haemorrhage in a pregnant woman with a multiple endocrine neoplasia syndrome (type 2A or Sipple's syndrome)

We present the case history of a 30-yr-old woman who suffered a cerebral haemorrhage toward the end of pregnancy (at 35 wk). The pregnancy was terminated by Caesarean section because aggravation of cerebral bleeding was feared. Extensive studies revealed that the patient was suffering from a multiple endocrine neoplasia syndrome (type 2A or Sipple's syndrome) with bilateral pheochromocytomas and a medullary thyroid carcinoma. She made an uneventful recovery. The relevant literature is discussed.     

Pheochromocytoma and medullary thyroid carcinoma in a pregnant multiple endocrine neoplasia-2A patient

Objective.?We describe a rare combination of pheochromocytoma and medullary thyroid carcinoma (MTC) during pregnancy.

Methods.?Twenty-three-years old lady, primigravida, was detected to be hypertensive at 12 weeks of gestation and was found to have left adrenal mass on routine obstetric scan. She had a goitre on examination which was proven to be MTC on fine needle aspiration cytology. Twenty-four hours urinary vanillyl mandelic acid and serum calcitonin levels were elevated. After adequate α and β blockade she underwent left adrenalectomy during second trimester of gestation with no significant perioperative complications. Twelve days later she underwent total thyroidectomy.

Results.?Adrenal mass was confirmed to be pheochromocytoma while MTC was confirmed in the thyroidectomy specimen. Post-operatively, she was normotensive and delivered a healthy female baby at term. Both mother and the baby tested positive for germline RET mutation (C634W) in exon 11.

Conclusion.?We describe a rare case of pregnant multiple endocrine neoplasia-2A patient with pheochromocytoma and MTC.     

De novo RET proto-oncogene mutation in a patient with multiple endocrine neoplasia type 2B.

We report a case of multiple endocrine neoplasia type 2B (MEN 2B) with de novo RET proto-oncogene mutation. The patient, a 23-year-old Taiwanese woman, was admitted for treatment of recurrent medullary thyroid cancer (MTC) 7 years after a total thyroidectomy. Mucosal neuromas and marfanoid appearance were also noted. Because MEN 2B was suspected, the patient and her family members underwent genetic analysis. A heterozygous germline mutation at codon 918 (ATG-->ACG) of the proto-oncogene RET was detected in the patient. This mutation was considered de novo, as it was not detected in either of her parents or her siblings. The patient underwent surgery for removal of the recurrent tumor. Although no pheochromocytoma was noted, regular follow-up is necessary because of persistent hypercalcitoninemia.     

Basal hormone levels in women with recurrent pregnancy loss

The potential role of endocrine abnormalities during the follicular phase in women with unexplained recurrent pregnancy loss was investigated in a retrospective study. Eighty women with recurrent pregnancy loss underwent routine work-up to exclude known associations with the condition. Following investigation ,58 women failed to reveal an identifiable cause ,and were therefore classified as having unexplained recurrent pregnancy loss. The control group consisted of women with known causes of abortions ,such as uterine septum and parental chromosomal abnormalities. Mean age ,gravidity ,parity ,presence of infertility, previous number of miscarriages and duration of marriage were similar in both groups. Day-3 serum levels of follicle stimulating hormone (FSH) ,estradiol ,luteinizing hormone (LH) prolactin ,total testosterone, dehydroepiandrosterone sulfate (DHEAS) and thyroid stimulating hormone (TSH) were compared in the two groups. FSH ,estradiol ,LH ,prolactin and DHEAS concentrations were significantly higher in the unexplained recurrent pregnancy loss group than in the explained recurrent pregnancy loss group ,although serum concentrations of all hormones were within the normal range (p < 0.01). TSH and total testosterone levels were similar in the two groups (p > 0.05). There were no differences in the frequency of abnormal levels of hormones between the two groups (p > 0.05). We conclude that endocrine abnormalities in the follicular phase are not associated with recurrent pregnancy loss.     

Results of a screening program for multiple endocrine neoplasia type II

After the diagnosis of MEN IIa syndrome in five members of a British family, a further 180 members were identified, 167 of whom were still alive. From death certificates, a further three were found to have been affected. Of these eight patients, only two were diagnosed and survived. Over the next four years, these two survivors and 90 others (those over the age of ten years) attended a screening program using alcohol or pentagastrin stimulated plasma calcitonin for MCT or urinary catecholamines for pheochromocytoma. The two surviving patients and 12 others were thought to have abnormal screening tests. One patient with an abnormal catecholamine excretion level had bilateral pheochromocytomas removed. Of the 13 patients with abnormal stimulated plasma calcitonin levels, five underwent total thyroidectomy, but MCT was found in only two. One of these patients and two of those in whom no tumor was found had persistently elevated stimulated plasma calcitonin levels postoperatively, suggesting the presence of C cells and, thus, persisting risk of MCT. In all patients, plasma calcitonin concentrations were variable, and an established normal range of values is essential if unnecessary surgical treatment is to be avoided. Pheochromocytoma proved difficult to diagnose, and pentagastrin stimulated plasma catecholamines deserves evaluation as a screening test. Despite the large effort involved, permanent screening of all family members is recommended as the only means of reducing mortality. Following any treatment, screening should continue because new disease or recurrence is possible.     

Ovarian gastrinoma in multiple endocrine neoplasia type I: a case report

We report a very rare case of ovarian gastrinoma in the context of multiple endocrine neoplasia type I, including primary hyperparathyroidism and Zollinger-Ellison syndrome. Somatostatin receptor scintigraphy revealed the ovarian involvement at an early stage. Oophorectomy led to the final diagnosis and complete healing.     

Prophylactic total thyroidectomy in an 8-year-old girl with multiple endocrine neoplasia type 2A.

We report a genetic carrier of multiple endocrine neoplasia type 2A (MEN 2A) who underwent prophylactic total thyroidectomy. The asymptomatic carrier of MEN 2A, an 8-year-old Taiwanese girl, was admitted for early thyroidectomy. Preoperative basal plasma concentrations of calcitonin and intact parathyroid hormone, and urine vanillylmandelic acid excretion, were normal. Ultrasonography of the thyroid was also normal. Pathology did not reveal any gross lesion but C-cell hyperplasia of the thyroid gland was found microscopically. Prophylactic total thyroidectomy is encouraged and is justified during the first decade of life for MEN 2A carriers.     

Early total thyroidectomy in patients with multiple endocrine neoplasia IIb syndrome

Medullary carcinoma of the thyroid gland (MCT) develops at an early age in children with multiple endocrine neoplasia (MEN) IIb syndrome. Prompt diagnosis of the syndrome and early total thyroidectomy offer the only chance for cure. Surgical guidelines for managing the pediatric patient with potential for MCT have included screening with provocative calcitonin tests beginning at one year of age and total thyroidectomy performed when either basal calcitonin or stimulated test levels become abnormal. The diagnosis of MEN IIb, however, can be made on the basis of pathognomic clinical features, including characteristic facies, marfanoid body habitus, submucosal ganglioneuromas and thickened corneal nerves. A family is described herein in which one member had the pathognomonic clinical findings of MEN IIb but did not have an elevated level of serum calcitonin in response to stimulation with pentagastrin and calcium. Nonetheless, a total thyroidectomy was performed and multiple microscopic foci of MCT were found on pathologic examination. This suggests that total thyroidectomy should be performed upon any patient with the characteristic phenotype of MEN IIb, regardless of the results of the stimulation test for calcitonin.     

Role of diltiazem in pregnant women with chronic renal disease

Objectives: Leptin, a hormone produced in adipose tissue and the placenta, is correlated with neonatal growth. The aim of this study was to investigate the effect of maternal smoking during pregnancy on cord blood leptin concentrations in term, appropriate-for-gestational-age infants.

Methods: Two groups of term, appropriate-for-gestational-age newborns were selected: 19 infants of smoking mothers and 91 infants of non-smoking mothers. Neonatal anthropometric measurements were taken and leptin levels were measured by radioimmunoassay.

Results: Leptin concentrations were similar (p?=?0.915) between the groups. Leptin levels correlated only with ponderal index (p?<?0.01) and gestational age of the newborns (p?<?0.05).

Conclusions: This study indicates that maternal smoking during pregnancy does not affect cord blood leptin levels in term, appropriate-for-gestational-age infants.     

Dissection of renal artery aneurysm in a pregnant woman with Elhers-Danlos disease type IV

Recall the clinical signs and personal and family medical history suggestive of Elhers-Danlos syndrome, mainly type IV. Review of literature and presentation of a clinical case observed in a female patient with Elhers-Danlos disease type IV who developed dissection of a renal artery during pregnancy. The prevalence of the syndrome is increasing, reaching, according to the latest publications 1/5,000 births. It is important to determine the type of syndrome to assess prognosis. In the classic type and in the hyper mobile type, pregnancy is generally well tolerated although certain complications linked to connective tissue dysfunction such as pelvic instability, premature delivery, bleeding postpartum and perineal lacerations, may develop. Ehlers-Danlos syndrome can be associated with serious and even fatal complications for these patients: vascular dissection or uterine rupture. It is important for obstetricians to be aware of the clinical signs and symptoms suggestive of Elhers-Danlos syndrome in a pregnant patient and to know the diagnostic possibilities and potential risks. If a typeIV syndrome is diagnosed, it is very important to inform the patient about the potential implications for pregnancy and maternal health, as well as the risk of transmission to the child and the possibility of antenatal diagnosis.     

Thyroid function tests in pregnant women with and without goiter in the eastern Black Sea region

Maternal thyroid function was investigated in 29 pregnant women with goiter and 51 pregnant women without goiter in the eastern Black Sea region of Turkey ,which is an endemic goiter area. Ten women with goiter and 10 healthy women without goiter were used as controls in the study. In all of the pregnant women ,increased concentrations of total and free thyroxine ,total and free triiodothyronine and thyroxine-binding globulin were found. Serum thyroid-stimulating hormone levels showed a decrease in pregnant women without goiter compared with non-pregnant women without goiter.     

Recurrence of phaeochromocytoma in pregnancy in a patient with multiple endocrine neoplasia 2A: a case report and review of literature

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited condition with a prevalence of one in 40?000 individuals. It causes the development of tumours in endocrine glands, such as medullary thyroid cancer, pheochromocytomas, as well as primary hyperparathyroidism. MEN 2A in pregnancy is very rare with only 29 cases reported in the literature. The presence of pheochromocytoma is a rare cause of hypertension during pregnancy with an incidence of 0.007% of all pregnancies. This has severe implications on both mother and the foetus. This case report describes a 22-year-old nulliparous Caucasian woman with known MEN2A syndrome, who underwent thyroidectomy for medullary thyroid carcinoma in childhood and excision of left sided pheochromocytoma at the age of 19. She was found to have a recurrence of pheochromocytoma in the right adrenal gland during pregnancy at 16 weeks of gestation and was oddly normotensive. Catecholamine effects were blocked with phenoxybenzamine and she delivered by an uneventful elective caesarean section at 36 weeks gestation. She underwent a laparoscopic right adrenalectomy six weeks postpartum, followed by lifelong corticosteroid replacement.     

Life-threatening septic shock in a pregnant woman with ileus

Septic shock during pregnancy is very rare but has high mortality. We report a case of septic shock in a pregnant woman with ileus, showing that severe ileus in a pregnant woman could be attributed to life-threatening septic shock and that we should give special attention to a nosocomial infection.