Incidentally Discovered Persistent Müllerian Duct Syndrome in a 45-year-old male presenting with germ cell tumor and bilateral cryptorchidism: A rare case report and review of the literature.

INTRODUCTION: Persistent Müllerian Duct Syndrome (PMDS) is a rare sexual disease. It is characterized by the presence of female reproductive structures such as uterus, cervix, fallopian tubes and upper part of vagina in a normal genotypically and phenotypically male. The diagnosis is usually incidental since the patients will present with normal external genitalia and secondary sexual characteristics. Imaging techniques such as magnetic resonance imaging (MRI), computed tomography (CT) scan, or ultrasound (US) could help in the diagnosis. CASE PRESENTATION: A 45-year-old male presented with bilateral undescended testes since birth and 2 months history abdominal mass. CT scan showed a 13 × 17 × 20 cm solid pelvi-abdominal mass. The diagnosis of mixed germ cell tumor of the undescended testes was made based on the CT scan. During resection of the tumor, patient was found to have a uterus, fallopian tubes and ovaries. DISCUSSION: Pathological investigation showed endometrial tissues with portion of lower uterine segment and cervix with remnant of testes with marked atrophy. No Ovarian tissues were found nor fallopian tube as well. The diagnosis of PMDS was made based on the pathological report. CONCLUSION: PMDS is a challenging condition to diagnose. Radiological investigation can miss the presence of the Müllerian duct structures as in our case because of the unusual presentation of this condition. Early diagnosis and management is important as the malignant transformation is high due to the undescended testes.

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.

[Growth hormone deficiency and pituitary stalk interruption in Fanconi anemia]. / Déficit en GH par interruption de la tige pituitaire dans l'anémie de Fanconi.

Fanconi anemia is a rare disorder inherited by recessive autosomic transmission belonging to the group of chromosomal instability syndromes. It is characterized by progressively developing medullary aplasia, various congenital malformations and especially a high risk of cancer, particularly acute myeloblastic leukemia and certain solid tumors. The association is quite common in patients with endocrine disease which constitutes an additional factor of morbidity and must be diagnosed and treated. We report a case of Fanconi anemia revealed by severe delay in statural growth and primary amenorrhea with a 21-year-old girl. The diagnosis was suggested by asymptomatic pancytopenia caused by a medullary hypoplasia and confirmed by a cytogenetic investigation using cross-linking agents that showed a large number of chromosomal breaks. Hormonal exploration revealed hypopituitarism with complete growth hormone (GH) deficiency and hypogonadotrophic hypogonadism caused by interruption of the pituitary stalk. The aim of this case report is to illustrate the importance of early exploration of retarded growth which, in some patients, can reveal potentially serious, and treatable, disease.

[Hypertension and insulin treatment in type 2 diabetes]. / L'hypertension artérielle au cours de l'insulinothérapie du diabétique de type 2.

UNLABELLED: Insulin resistance and endogenous hyperinsulinemia are associated with blood hypertension. OBJECTIVE: The aim of this analysis is to estimate the prevalence of blood hypertension one year after insulin treatment in type 2 diabetic patients. MATERIAL: and methods: This is a retrospective clinical study of 178 type 2 diabetic patients (57 men and 121 women) insulin treated since at least one year. Mean age is 62 +/- 10 years and mean duration of diabetes is ten years. All patients had a clinical and biological control before treatment with insulin and at least three controls during the first year of insulin treatment (anthropometric measurements, blood pressure, fasting plasma glucose, HbA1C). WHO definition of hypertension is used (blood pressure >or=140 / 90 mmHg). RESULTS: At baseline, 48% of patients have hypertension. After insulin treatment, the prevalence of hypertension significantly increase to 53% (94 / 178) three months later (p=0.008), to 54.5% (98 / 178) six months later (p=0.001) and to 55.6% (99 / 178) twelve months later. This increase in hypertension frequency is associated with a significant weight gain and a better blood glucose control. CONCLUSION: Insulin therapy may contribute to the development of blood hypertension. It promotes renal sodium retention and increases sympathetic nervous system activity. In the UKPDS intensive blood glucose control with insulin is not associated with an increase of macro vascular complications. These observational data suggest the need for further study of the relationship between exogenous insulin and hypertension.

[Adrenal metastasis of a papillary thyroid cancer]. / Métastase surrénalienne d'un cancer papillaire de la thyroïde.

Adrenal metastases of the papillary thyroid carcinoma (PTC) are very rare. We report one case. A 63-year-old woman had undergone 15 years earlier left lobo-ishmectomy for a papillary thyroid cancer (PTC) and 7 years earlier right adrenalectomy for a tumor. Histologic examination showed a benign cortical tumor. In 1999, when the patient was admitted for worsening of glycemic control, a recurrence of the adrenal mass was detected. According to the hormone evaluation it was a non-functional tumor. Adrenalectomy was performed in June 2002 because the patient had initially declined surgery. Histologic examination and thyroglobulin immunochemistry identified metastatic PTC. Re-reading the histology slide of the first adrenalectomy agreed with the diagnosis. Thyroidectomy was completed in March 2003. Although iodine-131 therapy and thyroxine treatment were given, bone metastases were detected in August 2004. PTC usually spreads to the cervical and mediastinal lymph nodes. Distant spread may occur to bone or lung, but exceptionally to the adrenal gland. The adrenal localization is often associated with lung or bone metastasis. In our patient, the adrenal metastasis remained isolated for many years. It has been reported that survival rate decreases considerably after appearance of a distant metastasis. Although given delayed radical treatment, our patient remained alive 13 years after.

[Imaging of cerebrotendinous xanthomatosis]. / Imagerie de la xanthomatose cérébrotendineuse.

Cerebrotendinous xanthomatosis is a rare lipid storage disorder due tocaused by an autosomal recessive inherited defect of the hepatic mitochondrial sterol 27 hydroxylase. It's characterized by accumulation of cholestanol and cholesterol in many tissues, in particular tendons and brain, with tendon xanthomas, juvenile cataracts, and neurological abnormalities. MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei. Early and long- term treatment may improve neurologic function. The authors present a case of cerebrotendinous xanthomatosis and describe ultrasound, computed tomography, and magnetic resonance findings.

[Toxic nodular goitre associated with papillary thyroid carcinoma and primary hyperparathyroidism]. / Association d'un goitre multinodulaire toxique, d'un carcinome papillaire de la thyroïde, et d'une hyperparathyroïdie primaire.

The association of a toxic multinodular goitre with papillary thyroid carcinoma and primary hyperparathyroidism is very rare. Only one case is reported in the literature, we present the second one. It is a 51 year old woman, who initially presented with a toxic nodular goitre. The diagnosis of primary hyperparathyroidism was made following renal complications and the discovery of papillary thyroid carcinoma was incidental during the surgical treatment of parathyroid adenoma. Whilst the association of those three diseases is exceptional, the coexistence of any two of them is relatively frequent without any known common etiopathogenetis. It is recognised that hyperparathyroidism can be found in hyperthyroid patients, but the diagnosis of hyperparathyroidism in these cases is very difficult. The fortuitous discovery of papillary thyroid carcinoma during parathyroid surgery has already been reported but in most cases it is a microcarcinoma. In patients presenting with hyperthyroidism the risk of an associated carcinoma is generally felt to be negligeable. However, this associations is not rare. The association of primary hyperparathyroidism, hyperthyroidism and papillary carcinoma of the thyroid is rare. However, the authors suggest that the presence of any of the pathologies should trigger a search for the other two.