Nejib Ben Abdallah

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

Background/Aims: The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations. Methods: Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes. Results: At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa. Conclusion: This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling.

Phéochromocytome surrénalien chez un insuffisant rénal chronique en dialyse péritonéale

Pheochromocytoma is a rare tumor responsible for paroxysmal hypertension which is difficult to control. Diagnosis is important because it represents a curable form of hypertension. Few cases of pheochromocytoma patients with end-stage renal failure were reported in the literature. These cases are specially responsible for diagnosis and therapeutic problems. We report here a case of an end-stage renal failure patient who has pheochromocytoma, he was treated by automated peritoneal dialysis. The patient is a 47-year-old man who has an IgA glomerulonephritis. On peritoneal dialysis, his blood pressure level remains high despite four antihypertensive drugs association and adequate dialysis. Furthermore, the patient suffered from headaches, sweats and palpitations. This leads to suspect pheochromocytoma. Thus, urinary excretion rates of metanephrines and normetanephrines were high. Radiographic diagnosis tests were negative but MIBG scintigraphy was able to localise the tumor in the left suprarenal gland. He had coelioscopic left adrenalectomy without complications, microscopic studies showed an hyperplasia of the adrenal medulla. Soon after surgery his blood pressure was well controlled by one antihypertensive drug. We conclude that refractory hypertension, as a possible diagnosis, is uncommon in peritoneal dialysis patients. Pheochromocytoma must be eliminated by careful evaluation.

Spontaneous ovarian hyperstimulation syndrome revealing a pituitary macroadenoma.

Sir, Ovarian hyperstimulation syndrome is most commonly an iatrogenic complication of exogenous gonadotropin administration for ovulation induction. Its clinical presentation varies from abdominal pain and bloating, nausea, vomiting, and ovarian enlargement to possibly life‐threatening conditions including renal failure, hypovolemic shock, adult respiratory distress syndrome, thromboembolism, and pericardial effusion.[1]

Voluminous lateral lymph node metastasis from papillary thyroid microcarcinoma

1. Halupczok J, Kluba‐Szyszka A, Bidzinska‐Speichert B, Knychalski B. Ovarian hyperstimulation caused by gonadotroph pituitary adenoma – Review. Adv Clin Exp Med 2015;24:695‐703. 2. Roberts JE, Spandorfer S, Fasouliotis SJ, Lin K, Rosenwaks Z. Spontaneous ovar ian hypers t imula t ion caused by a follicle‐stimulating hormone‐secreting pituitary adenoma. Fertil Steril 2005;83:208‐10. 3. Pentz‐Vidovíc I, Skoric T, Grubisic G, Korsíc M, Ivicevic‐Bakulic T, Besenski N, et al. Evolution of clinical symptoms in a young woman with a recurrent gonadotroph adenoma causing ovarian hyperstimulation. Eur J Endocrinol 2000;143:607‐14. 4. Christin‐Maitre S, Rongières‐Bertrand C, Kottler ML, Lahlou N, Frydman R, Touraine P, et al. A spontaneous and severe hyperstimulation of the ovaries revealing a gonadotroph adenoma. J Clin Endocrinol Metab 1998;83:3450‐3. 5. Shimon I, Rubinek T, Bar‐Hava I, Nass D, Hadani M, Amsterdam A, et al. Ovarian hyperstimulation without elevated serum estradiol associated with pure follicle‐stimulating hormone‐secreting pituitary adenoma. J Clin Endocrinol Metab 2001;86:3635‐40.

An exceptional manifestation of spondylarthropathy: Destructive proximal tibio-fibular arthritis

dition (systemic sclerosis and a chronic atherosclerotic ischemia), and immunosuppression caused by drugs (steroids, cyclophosphamide). Computed tomography is sensitive at detecting pneumatosis intestinalis, but the imaging appearance does not allow distinguishing between benign and life threatening causes, clinical data are required [3]. The presence in our case of pneumoperitoneum without infection illustrates that to our knowledge pneumatosis intestinalis is the only situation capable of producing pneumoperitoneum without peritonitis [4]. The treatment of pneumatosis cystoides intestinalis is largely symptomatic; no surgical procedure is needed [5] except in the case of intestinal perforation, antibiotics [6] and parenteral nutrition can give temporary relief. Because the cysts contain principally nitrogen, oxygen therapy is a logical proposition, it seems to be efficient [7] but with a high rate of recurrence [8]. Octreotide could have an effect on intestinal motility and bacterial overgrowth to prevent recurrence of similar episodes [9]. The macrovascular disease in our patient raises the question of the potential pathogenic role of systemic sclerosis despite the existence of classical risk factors (e.g. smoking). It has been shown that macrovascular disease could be more common in these patients [10].