1/3988. prenatal diagnosis of thyroid hormone resistance. A 29-yr-old woman with pituitary resistance to thyroid hormones (PRTH) was found to harbor a novel point mutation (T337A) on exon 9 of the thyroid hormone receptor beta (TRbeta) gene. She presented with symptoms and signs of hyperthyroidism and was successfully treated with 3,5,3'-triiodothyroacetic acid (TRIAC) until the onset of pregnancy. This therapy was then discontinued in order to prevent TRIAC, a compound that crosses the placental barrier, from exerting adverse effects on normal fetal development. However, as the patient showed a recurrence of thyrotoxic features after TRIAC withdrawal, we sought to verify, by means of genetic analysis and hormone measurements, whether the fetus was also affected by RTH, in order to rapidly reinstitute TRIAC therapy, which could potentially be beneficial to both the mother and fetus. At 17 weeks gestation, fetal dna was extracted from chorionic villi and was used as a template for PCR and restriction analysis together with direct sequencing of the TRbeta gene. The results indicated that the fetus was also heterozygous for the T337A mutation. Accordingly, TRIAC treatment at a dose of 2.1 mg/day was restarted at 20 weeks gestation. The mother rapidly became euthyroid, and the fetus grew normally up to 24 weeks gestation. At 29 weeks gestation mild growth retardation and fetal goiter were observed, prompting cordocentesis. Circulating fetal TSH was very high (287 mU/L) with a markedly reduced TSH bioactivity (B/I: 1.1 /- 0.4 vs 12.7 /- 1.2), while fetal FT4 concentrations were normal (8.7 pmol/L; normal values in age-matched fetuses: 5-22 pmol/L). Fetal FT3 levels were raised (7.1 pmol/L; normal values in age-matched fetuses: <4 pmol/L), as a consequence of 100% cross-reactivity of TRIAC in the FT3 assay method. To reduce the extremely high circulating TSH levels and fetal goiter, the dose of TRIAC was increased to 3.5 mg/day. To monitor the possible intrauterine hypothyroidism, another cordocentesis was performed at 33 weeks gestation, showing that TSH levels were reduced by 50% (from 287 to 144 mU/L). Furthermore, a simultaneous ultrasound examination revealed a clear reduction in fetal goiter. After this latter cordocentesis, acute complications occured, prompting delivery by cesarean section. The female neonate was critically ill, with multiple-organ failure and respiratory distress syndrome. In addition, a small goiter and biochemical features ofhypothyroidism were noted transiently and probably related to the prematurity of the infant. At present, the baby is clinically euthyroid, without goiter, and only exhibits biochemical features of RTH. In summary, although further fetal studies in cases of RTH are necessary to determine whether elevated TSH levels with a markedly reduced bioactivity are a common finding, our data suggest transient biochemical hypothyroidism in RTH during fetal development. Furthermore, we advocate prenatal diagnosis of RTH and adequate treatment of the disease in case of maternal hyperthyroidism, to avoid fetal thyrotrope hyperplasia, reduce fetal goiter, and maintain maternal euthyroidism during pregnancy. ( info) |
| We describe the changes in calcium homeostasis seen in a hypoparathyroid woman during the third trimester and with lactation following her second pregnancy. During lactation her need for supplemental calcium and calcitriol abated, and in fact she was transiently hypercalcemic and hypophosphatemic. This change was associated with a rise of serum parathyroid hormone-related peptide (PTHrP) released systemically during lactation. This is the first documentation of the time course of serum PTHrP levels from the late third trimester throughout lactation in a hypoparathyroid woman. In this context PTHrP may have sufficient biological activity to compensate for parathyroid hormone deficiency. ( info) |
3/3988. Inflammatory pseudotumor of the liver and pregnancy. Inflammatory pseudotumor of the liver (IPL) is a rare, nonneoplastic entity of unknown etiology. Our patient represents the first reported case of IPL that was managed conservatively during an intrauterine pregnancy. ( info) |
| In her eighth month of pregnancy a woman was stabbed in the abdomen with a barbecue fork. Upon delivery one week later, the child was noted to have two scars in the thoracic region on the back. The legs were flaccid. Surgical exploration at the age of seven months revealed marked, dense scarring of spinal cord and arachnoid membrane. No similar case was found in the literature. ( info) |
5/3988. Histologically proven lymphocytic hypophysitis: spontaneous resolution and subsequent pregnancy. Of the 128 previously reported cases of lymphocytic hypophysitis, the diagnosis was histologically proven in 6 patients in whom the pituitary mass regressed spontaneously; only 1 subsequently became pregnant. Among six additional patients who became pregnant after a diagnosis of presumed lymphocytic hypophysitis, the disease was confirmed histologically in only three, two of whom underwent surgical debulking and one who had no follow-up imaging. To our knowledge, we describe the second patient with histologically proven lymphocytic hypophysitis, associated with adrenocorticotropic hormone (corticotropin) and prolactin deficiencies, in whom the pituitary mass regressed completely with physiologic hydrocortisone therapy only and in whom a spontaneous pregnancy occurred subsequently with no postpartum recurrence of the pituitary mass. This information lends credence to previous recommendations that, in the absence of visual field defects, surgical and corticosteroid therapy may be safely withheld, with periodic reassessment. ( info) |
6/3988. Desmoid tumour. The risk of recurrent or new disease with subsequent pregnancy: a case report. Desmoid tumours are rare, benign tumours arising from fibrous tissue in muscle fascia or aponeurosis. They are most common in women of child-bearing age and most often appear during or after pregnancy in this age group. The recommended treatment is wide surgical excision, if possible, but unresectable tumours may be treated with radiotherapy, anticancer drugs, nonsteroidal anti-inflammatory agents or antiestrogenic compounds. The recurrence rate is high and seems to be related to the achievement of resection margins free of tumour. The literature is not specific about how to counsel women who have had a desmoid tumour and subsequently wish to have a child. patients should be advised that these tumours may be estrogen sensitive but subsequent pregnancy is not necessarily a risk factor for recurrence or development of new disease. ( info) |
| BACKGROUND: The proper treatment of mood disorders occurring during pregnancy is a major therapeutic problem since no antidepressant medications have been established as safe for the developing fetus. Several double-blind placebo-controlled studies have explored the efficacy of repetitive transcranial magnetic stimulation (rTMS) in depression. CASE: We report the case of a 36-year-old woman in her second trimester of pregnancy, whose depression (DSM-IV) and anxiety were successfully treated with rTMS. Further studies of rTMS in depressed pregnant women appear warranted. ( info) |
8/3988. Maternal syndrome associated with hydrops fetalis: case report. A case of maternal fluid retention syndrome associated with fetal hydrops due to rhesus isoimmunisation is reported. The aetiology and clinical features are discussed. Prophylactic anti-Rh immunoglobin should reduce the incidence of such cases in the future. ( info) |
| A 31-year-old pregnant woman suddenly complained of bilateral hip pain 2 weeks before delivery. She was delivered of triplets by Caesarean section. She had been treated with human menopausal gonadotropin and human chorionic gonadotropin (hMG-hCG) before pregnancy. Radiograms of the hip joint showed collapse of the femoral heads bilaterally. magnetic resonance imaging revealed a band pattern of low signal intensity for both hips on T1- and T2-weighted images. She had no history of steroid therapy or alcohol abuse. osteonecrosis of the femoral heads bilaterally associated with pregnancy was confirmed. pathology of the femoral head showed typical empty lacunae and necrosis of the trabecula. ( info) |
10/3988. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. pregnancy experience in this population is limited. We report the pregnancy outcomes and serial measurements of maternal serum steroid levels in four women with classic 21-hydroxylase deficiency, three of whom were female pseudohermaphrodites with the salt-losing form. These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. In the fourth patient, androgen levels were strikingly elevated during gestation despite increasing the dose of oral prednisone from 5 to 15 mg/day (two divided doses). Notwithstanding the high maternal serum concentration of androgens, however, placental aromatase activity was sufficient to prevent masculinization of the external genitalia of the female fetus and quite likely the fetal brain, consistent with the idea that placental aromatization of androgens to estrogens is the principal mechanism that protects the female fetus from the masculinizing effects of maternal hyperandrogenism. These four patients highlight key issues in the management of pregnancy in women with 21-hydroxylase deficiency, particularly the use of endocrine monitoring to assess adrenal androgen suppression in the mother, especially when the fetus is female. Recommendations for the management of pregnancy and delivery in these patients are discussed. ( info) |