Is Premature Thelarche in the First Two Years of Life Transient?

Objective: Premature thelarche (PT) refers to isolated onset of thelarche in girls younger than 8 years of age. Most cases have an onset under 2 years of age. We aimed to establish whether the onset of thelarche under 2 years of age certifies a transient clinical course, as suggested by several authors.Methods: Sixty-seven girls with an onset of PT under 2 years of age were classified as having early puberty (EP) or classical PT after one year of follow-up. Progression of pubertal findings or absolute growth velocity (GV) standard deviation score (SDS) above 1 SDS constituted the criteria for a diagnosis of EP. Results: Twenty (29.1%) girls were classified as having EP and 47 (70.1%) girls as having classical PT. Basal serum luteinizing hormone (LH; ICMA) values at a cut-off level of 0.3 IU/L were found to be a significant risk factor for having an atypical course [OR=7.8; CI (95%): 2.04– 30.4, p=0.003]. Conclusions: Onset of thelarche under 2 years of age does not assure a transient course in a remarkable proportion of girls with PT. An absolute GV value of >1 SDS or a basal LH level ≥0.3 IU/L are suggested as indicators for close follow-up. Conflict of interest:None declared.     

A rare complication of mechanical aortic valve replacement: Separation in the region of the mitral‐aortic intervalvular fibrosa

A 28‐year‐old man was admitted to our emergency service with a shortness of breath and palpitation. On admission, his blood pressure was high and he was in hypertensive pulmonary edema. His physical examination showed rales in both lungs and pansystolic murmur at mitral focus. His medical history included aortic valve replacement (AVR) because of native aortic valve infective endocarditis. Transthoracic echocardiography (TTE) showed normal functional aortic valve. Color flow imaging demonstrated severe mitral regurgitation with posterior eccentric jet. To examine in detail, transesophageal echocardiography (TEE) and three‐dimensional (3D) echocardiography were performed. TEE disclosed a separation in the subaortic curtain leading to severe mitral regurgitation from the left ventricle to the left atrium. In addition to severe mitral regurgitation with posterior eccentric jet, 26‐mm‐long pouch was seen in mitral‐aortic intervalvular fibrosa (MAIVF) at 120° TEE view. This pouch was separated from the mitral anterior leaflet junction releasing the mitral anterior leaflet and causing prolapse and chorda rupture in the A2 scallop of the mitral anterior leaflet. The MAIVF connects the anterior mitral leaflet to the posterior portion of the aortic annulus. The separation of the MAIVF represents a complication of the aortic valve replacement.     

A Combination of Nifedipine and OctreotideTreatment in an HyperinsulinemicHypoglycemic Infant

Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and infancy periods. Mutations in the ABCC8 and KCNJ11 genes, which encode subunits of the ATP-sensitive potassium channel in the pancreatic beta cell, are identified in approximately 50% of these patients. The first-line drug in the treatment of HH is diazoxide. Octreotide and glucagon can be used in patients who show no response to diazoxide. Nifedipine, a calcium-channel blocker, has been shown to be an effective treatment in a small number of patients with diazoxide-unresponsive HH. We report a HH patient with a homozygous ABCC8 mutation (p.W1339X) who underwent a near-total pancreatectomy at 2 months of age due to a lack of response to diazoxide and octreotide treatment. Severe hypoglycemic attacks continued following surgery, while the patient was being treated with octreotide. These attacks resolved when nifedipine was introduced. Whilst our patient responded well to nifedipine, the dosage could not be increased to 0.75 mg/kg/day due to development of hypotension, a reported side effect of this drug. Currently, our patient, now aged 4 years, is receiving a combination of nifedipine and octreotide treatment. He is under good control and shows no side effects. In conclusion, nifedipine treatment can be started in patients with HH who show a poor response to diazoxide and octreotide treatment.