A Case of Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Mutation (I54V).

Resistance to thyroid hormone (RTH) is a rare disorder characterized by variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TRß). It has been reported that the serum of patients with RTH is free of auto-antibodies against thyroglobulin (Tg) and thyroid peroxidase (TPO), except in rare cases where coincidental autoimmune thyroiditis is also present. We describe a 13-year-old girl with chronic thyroiditis and RTH. This patient had increased plasma free T3, free T4 at the upper limits with unsuppressed TSH. She had peripheral manifestations of thyroid hormone excess, hypertension and growth acceleration. Anti-TPO antibodies were positive. Sequence analysis of the TRß gene was performed and revealed a novel mutation I54V in exon 4. The same mutation was also found in the mother and two asymptomatic sisters. The clinical presentation of our patient is not habitual in RTH because growth retardation is frequently reported in this syndrome. The association between RTH and thyroiditis complicate the management of the hypothyroidism.

[Management of acromegaly in pregnant woman]. / Prise en charge de l'acromégalie évolutive au cours de la grossesse.

Pregnancy in acromegalic patients is an infrequent event, due to perturbed gonadotroph function. On the other hand, pregnancy may cause an enlargement of the adenoma or an increase of growth hormone (GH) secretion. We report the case of a 26-year-old woman with a GH-secreting pituitary macroadenoma who was operated by transphenoidal approach. After surgery, she had a persistent acromegaly due to an intrasellar tumour. She was treated by lanreotide. After one year, the patient had married and became pregnant. Lanreotide was stopped when the diagnosis of pregnancy was established. The follow-up of this patient showed a progressive increase of IGF1 level during pregnancy without tumoral syndrome or visual troubles. No metabolic complication was detected. The patient went to term and gave birth to a healthy baby. In postpartum, the IGF1 level was normal, but the brain MRI revealed a 10mm intrasellar tumour. The pituitary adenoma was not significantly enlarged during pregnancy. Therefore, pregnancy doesn't influence acromegaly in young women well controlled by medical treatment.

[Celiac disease revealed by hypocalcemia complicating total thyroidectomy: a case report]. / Maladie coeliaque révélée par une hypocalcémie secondaire à une thyroïdectomie totale: à propos d'un cas.

In order to illustrate a particular circumstance of diagnosis of celiac disease, we report the case of 54-year-old women with a history of thyroid enlargement with normal thyroid function and positive anti-peroxidase antibodies. Immediately after total thyroidectomy with preservation of the parathyroid glands, she developed tetany with total serum calcium level at 50mg/l. Intravenous calcium infusion increased the calcium level and led to resolution of hypocalcemia-induced signs but there was no result when calcium and vitamin D were taken orally. The diagnosis of malabsorption was very probable in light of the family history of celiac disease, the anemia and the hypoalbuminemia. The diagnosis was confirmed by antibodies assay and endoscopy. The PTH level was less than 1 pg/l and radiography showed signs of hyperparathyroidism. Gluten-free diet, calcium and vitamin D led to an improvement of serum calcium.

[Hypertension in polycystic ovary syndrome]. / L'hypertension artérielle au cours du syndrome des ovaires polykystiques.

UNLABELLED: Polycystic ovary syndrome (PCOS) is associated with multiple cardiovascular risk factors. The aims of this study are to investigate the prevalence of hypertension in a female population with PCOS and to correlate hypertension with her clinical and hormonal profile. MATERIALS AND METHODS: it is a transversal study of 79 PCOS patients with mean age of 25 +/- 7 years (range 13-44). PCOS diagnosis is made by Rotterdam consensus criteria's (2003). WHO definition of hypertension is used (BP 140/90 mmHg). Blood pressure is measured three times in each patient. Ovarian echography and biochemical assays (GnRH test, androgens, cholesterol, triglycerides, and oral glucose tolerance test) are made before the 5th day of the menstrual cycle. RESULTS: 12% of PCOS women have hypertension. Family history of hypertension is not a predictive factor of hypertension in our study. PCOS patients with hypertension are not significantly older than those without hypertension (28.4 +/- 6.5 vs. 25.2 +/- 7; p = 0.12). If compared to PCOS women without hypertension, those with hypertension have a significantly higher BMI (39.2 +/- 7 vs. 29.6; p = 0.0004). PCOS patients with and without hypertension do not differ significantly in their level of androgens and total cholesterol. Triglycerides level is higher in PCOS patients with hypertension (p = 0.06). In oral glucose tolerance test, areas under the curve of insulin and glucose are significantly higher in PCOS patients with hypertension (respectively p = 0.06 and 0.02). The area under the curve of LH during GnRH test is lower in PCOS patients with hypertension (p = 0.04).

[Hypopituitarism and antiphospholipid syndrome]. / Hypopituitarisme et syndrome des antiphospholipides.

Endocrine disorders seen in antiphospholipid syndrome are rare. To date, these disorders have generally involved Addison's disease. Recently reports have appeared of a few cases of primary or secondary hypopituitarism associated with primary antiphospholipid syndrome. We report the case of a young female patient who presented neuroendocrine symptoms during the postpartum period associated with an antiphospholipid syndrome. Hormone assessment showed complete anterior hypopituitarism and antiphospholipid antibodies were positive. We discuss the clinical, biological and radiological features observed in our patient and compare results with cases reported in the literature. This case illustrates the importance of screening for antiphospholipid syndrome in the etiological work-up of hypopituitarism associated with a history of recurrent thrombosis.