1/7. Androgen-secreting adrenal adenomas.BACKGROUND: The androgen source in women with hirsutism and signs of virilism may be the ovary or adrenal gland. CASES: Three patients with androgen excess are reported. Two had hyperandrogenemia and cushing syndrome with an adrenal mass greater than 5.5 cm; the third had a small adrenal adenoma secreting only testosterone and responsive to human chorionic gonadotropin. In all cases, the pathologic report from surgery and the long-term resolution of symptoms confirmed the benign nature of the tumors. CONCLUSION: Basal and dynamic hormonal tests cannot precisely differentiate ovarian from adrenal tumors. Adrenal adenomas must be considered as a cause of hyperandrogenic syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/7. Schinzel-Giedion syndrome: a further cause of West syndrome.Schinzel-Giedion syndrome (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly. Cardiac and urogenital malformations are also present. Thirty-three cases have been described so far. We report on a boy affected by SGS in whom a long-term EEG follow-up showed a progressive deterioration of the background bioelectric activity ending, at the age of 19 months, with a hypsarrhythmic pattern clinically correlated with severe and refractory infantile spasms. EEG deterioration and neuroradiological findings, which showed progressive brain atrophy, confirm the neurodegenerative nature of SGS. We also re-evaluated all the published cases and found that 33% of patients with SGS experienced neonatal seizures and another 25% developed West syndrome in the following months. The seizures appeared extremely refractory to several anticonvulsive treatments. In conclusion, we believe that SGS should be included among the causes of secondary West syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/7. Bilateral ovarian fibromatosis presenting with ascites and hirsutism.BACKGROUND: Ovarian fibromatosis is a very rare nonneoplastic disease. Due to the rarity and atypical clinical presentations, they may give rise to a misdiagnosis of malignancy and unnecessary extensive surgical interventions. literature lacks definitive data about this rare disease and its preoperative evaluations. MRI together with the intraoperative frozen section may help us to define the benign nature of the disease. In this report, we aimed to review the literature and give a highlight to the gynecologic oncologists about this rare disease. CASE history: A 19-year-old female patient admitted to our hospital with the complaints of menstrual irregularity, hirsutism, and increased abdominal girth. physical examination revealed bilateral ovarian mass, hirsutism, and ascites. serum CA-125 levels were slightly elevated. Preoperative MRI study showed bilateral hypointense lobulated ovarian masses. With the initial diagnosis of ovarian tumor, we performed explorative laparotomy and excised both masses. Final pathology was reported as bilateral ovarian fibromatosis. CONCLUSION: Ovarian fibromatosis commonly presents with ascites and solid pelvic mass and can be misdiagnosed as a malignant ovarian tumor. In young patients, clinicians should consider ovarian fibromatosis in differential diagnosis of pelvic mass. Preoperative MRI findings and intraoperative frozen examination may be used to avoid unnecessary aggressive surgical management.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/7. Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family.Two new cases with the Tel-Hashomer camptodactyly syndrome have been ascertained in an Indian family. This report emphasizes the autosomal recessive nature of disease and documents an additional feature of hirsuitism not previously described. The gene for Tel-Hashomer camptodactyly syndrome is present in all populations around the world.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/7. Isolated dehydroepiandrosterone sulphate hypersecretion: a case report.The case of a 17-year-old male with isolated hypersecretion of dehydroepiandrosterone sulphate (DHEAS) is described. cushing syndrome, congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, an androgen producing adrenal tumour, and elevated plasma DHEAS due to an increased renal threshold were excluded. Selective renal vein catheterization confirmed bilateral, isolated adrenal DHEAS hypersecretion. The dexamethasone suppression suggests a functional nature of this alteration. This condition has to be considered in the differential diagnosis of excessive adrenal androgen production in males, or of hirsutism in females.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/7. Ovarian sertoli-leydig cell tumor in an amenorrheic hirsute patient.As ovarian Sertoli-Leydig cell tumors are extremely rare, it appears worthwhile to report cases with uncommon clinical and/or laboratory findings. A 37-year-old nulligravida female was referred because of secondary amenorrhea and hirsutism for 11 years. She appeared virilized with a male body habitus. The highest plasma testosterone (T) level was 1,070 ng/dl. A laparotomy with salpingo-oophorectomy was performed and the pathological report confirmed the presence of sertoli-leydig cell tumor of intermediate differentiation. Ovarian venous T value was 5,690 ng/dl. The patient was alive and well with improved hirsutism 4 years after the operation. The duration of symptoms and T level in our patient were among the highest values ever recorded in the literature. This supports the slowly progressive nature of the tumor and emphasizes that Sertoli-Leydig cell tumors should be included in the differential diagnosis of patients with elevated T level regardless of the duration of clinical symptoms.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/7. Adrenal incidentalomas: adrenal hemangioma in a patient with congenital adrenal hyperplasia.We describe a case of an adrenal incidentalomas in the setting of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The adrenal mass was shown to be a cavernous hemangioma. Such neoplasms are rare but have the risk of retroperitoneal hemorrhage and may be difficult to differentiate from malignant adrenal tumors. The main consideration brought up by this case was that the simultaneous occurrence of an endocrinologically active disease such as CAH in association with a likely incidentalomas may lead to surgical intervention, due to the impossibility of being certain of its nonsecretory nature. Laparoscopic adrenalectomy allowed safe resection with no morbidity and a short hospitalization.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |