ESPE Abstracts

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

Background: To evaluate potential function of visfatin in SW872 adipocytes under the conditions which produce insulin resistance by free fatty acids (FFAs). Then to explore the mechanism of visfatin on the level of signal molecules.Objective and hypotheses: To evaluate the effects of visfatin on the mRNA expressions of the insulin signal molecules including insulin receptor substrate 1 (IRS1), IRS2, and phosphatidylinositol 3 kinase (PI3K) on the states ...

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...

Background: Congenital hyperinsulinism (CHI) is a cause of severe persistent hypoglycaemia in children. Diazoxide is the first line medical therapy for CHI; however diazoxide is usually ineffective in CHI with KATP channel gene mutations. Patients with no mutations in the KATP channel genes do respond to therapy with diazoxide. There are no previous studies assessing how long diazoxide therapy is needed in those patients with no genetic aetiology identifi...

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

Background: First line treatment for an ACTH-secreting pituitary adenoma is transsphenoidal resection (TSR) of the tumor. Treatment options for patients with recurrent or persistent disease after surgery include another TSR, medical management, bilateral adrenalectomy, radiosurgery, or a combination of these. Radiosurgery represents a potentially curative treatment option for patients with recurrent or persistent disease.Case presentation: A boy was diag...

Background: Macroprolactinomas are rare during childhood. Hypopituitarism is a common feature and recovery of pituitary function was reported following cabergoline therapy.Objective: We present a case of 13 year-old boy with macroprolactinoma who responded to cabergoline therapy with a complete regression of the tumor with a partial empty sella.Results: He complained of a decreased of right vision since 1 year. Evaluation of anteri...

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

Background: Although thiamazole (MMI) is the first-line treatment for non-pregnant women with Graves’ disease, the teratogenic effects of this drug have been confirmed. Surgical anomalies known as ‘major MMI-related anomalies’ include omphalomesenteric duct remnants. This is a common difficulty when attempting to clarify whether there is any association between infrequent surgical anomalies and MMI exposure using data derived from women with Graves’ disease...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...