Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

CONTEXT: Agenesis of the internal carotid artery and hypoplasia of the internal carotid artery are rare congenital abnormalities, involving less than 0.01% of the general population. Congenital hypopituitarism is also a rare condition; thus, the association of the two entities is unlikely to be casual. We describe one pediatric case of agenesis of the internal carotid artery with hypopituitarism and review other known cases. EVIDENCE ACQUISITION AND SYNTHESIS: In this brief clinical case seminar, we summarize the current understanding of this association based on a MEDLINE search of all peer-reviewed publications (original articles and reviews) on this topic between 1980 and 2011. We found nine other cases, mainly diagnosed during childhood. Defects of pituitary function varied among cases; in four, midline anomalies were present. CONCLUSION: There are two theories that are not mutually exclusive to explain the association of congenital vascular malformation and pituitary hypoplasia with hypopituitarism: the first involves hemodynamic mechanisms, and the second, complex neural-crest differentiation and/or migration disorders. Whatever the real physiopathological mechanism responsible for this condition, it could be considered as a new clinical entity.

Thrombophilic screening in Turner syndrome.

AIM: The aim of this study was to determine, in patients with Turner syndrome (TS), the prevalence of thrombophilic disorders correlating with a higher risk of venous thromboembolism (VTE), to evaluate if thrombophilia is associated with the genetic features of these patients and whether screening before hormone replacement therapy (HRT) is advisable. PATIENTS AND METHODS: We examined 82 TS patients. In all patients we analyzed activated factor VIII:C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine. For every patient, an investigation for mutations in prothrombin G20210A, factor V R506Q, methylenetetrahydropholate reductase (MTHFR) C 677T and A1298C was conducted. RESULTS: Low values of PC in 3 patients (3.70%), low values of PS in 12 (14.81%), and hyperhomocysteinemia in 4 (4.87%) were found; 52 girls (64.2%) presented hyperfibrinogenemia. Three patients were heterozygous for the prothrombin G20210A allele mutation (3.66%) and the factor V mutation was present in 4 patients (4.88%). No TS patient had a homozygous mutation. Mutations in the MTHFR gene were present in 62 girls, in 17 patients (20.7%) they were homozygous and in 45 patients (54.88%) heterozygous. CONCLUSIONS: Considering the increased risks with the association between VTE and the higher prevalence of PC and PS deficiencies, TT genotype mutations and high level of fibrinogen, it is advisable to perform a complete thrombophilia screening in TS patients before starting HRT.

Unusual presentation of juvenile granulosa cell tumor of the ovary.

BACKGROUND: We present a case report of juvenile granulosa cell tumor of the ovary (JGCT) with an unusual clinical presentation and hormonal secretion. CASE: A 16-yr-old girl had developed spontaneous menarche at the age of 12 yr, but after this initial menstrual bleeding she had no further periods for 4 yr. She had no clinical signs of virilization. Endocrinological studies detected high levels of DHEA, 17 hydroxyprogesterone (17OH-P), insulin and PRL, an exaggerated DHEA response after ACTH stimulation, and low FSH and high LH values after GnRH. An ultrasound examination revealed an irregular structure and increased diameters of her right ovary, due to the presence of a cyst. Because exploratory laparoscopy revealed the presence of a right ovarian mass, her right ovary was removed. JGCT was diagnosed. Ten days after surgery, menstrual bleeding initiated. Endocrinological evaluation after the operation showed that 17OH-P, insulin and basal FSH and LH serum values had returned to normal, while DHEA levels had decreased to within the upper limit of the normal range. Only PRL levels remained unchanged. CONCLUSION: Our patient presented some unusual characteristics. She did not have precocious puberty, but secondary amenorrhea. Hormonal secretion consisted mainly of androgens, even though clinical signs of virilization were not present.