1,721,292 research outputs found
Fertility preservation in adolescents with Klinefelter's syndrome.
No full textKlinefelter's syndrome (KS) is one the most common sex chromosomal abnormalities and is characterized by hypergonadotropic hypogonadism and infertility. Some men with non-mosaic syndrome have azoospermia and only few have oligospermia. In adult 47,XXY, germ cell aplasia, total tubular atrophy or hyalinising fibrosis and relative hyperplasia of Leydig cells are found. Occasionally, single foci of spermatogenesis do exist in the testes. The mechanisms leading to degeneration of seminiferous tubules are unknown. But this process accelerates dramatically at the time of puberty. Therefore, the preservation of reproductive potential for a chromosopathy that for years has been synonymous of sterility may offer to KS subjects the ability to father genetically own their child and may have significant psychological consequences in adulthood. In non-mosaic KS, pregnancy have been reported using intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa. In azoospermic KS men, ICSI using testicular spermatozoa retrieved with micro-testicular extracted sperm (TESE) is the sole mode of treatment that can be offered, besides sperm donation. These issues are addressed here with the aim of assisting physicians in the management of adolescents with KS
Unilateral asymptomatic testis enlargement in children and adolescents
No full textIn literature a well codified definition of unilateral asymptomatic testis enlargement does not exist. Therefore in these cases the pediatrician or adolescentologist will have to make a clinical and diagnostic evaluation in order to exclude: a) an enlarged testis secondary to tumors, surgery, or endocrinological diseases; b) a small testis due to a previous (ex. cryptorchidism) or current disease (e.g. varicocele).The presence of a mild difference in testis volumes during puberty is not at all rare. This situation may be due to the technique used for evaluation of testis volume or secondary to a varicocele. The identification of variants of testis enlargement is important, because, while on one hand there are conditions without clinical relevance, on the other hand, there are diseases that require early diagnosis and immediate treatment. The Authors report a brief review of the literature and their own clinical experience. 14 patients with unilateral testis enlargement were observed. At the first examination, mean age was 12.3±1.2 years and the volume of the enlarged testis varied between 4 ml and 20 ml (mean volume 10±4 ml) versus 1.5 ml and 10 ml (mean volume 5±2 ml) of the contralateral testis. In 75% of cases the right testis was affected. During the ten year follow-up, the volume of the enlarged testis never exceeded 25 ml and progressive reduction of the difference between the two testes was demonstrated. Therefore, they propose another clinical condition defined as transitory unilateral testis enlargement of puberty
Endocrine histology findings in a prepubertal thalassemic girl with multiple endocrine complications secondary to iron overload
No full textβ-thalassaemia major (TM) is an inherited disorder of erythropoiesis requiring regular blood transfusions and chelation therapy for the iron overload resulting from transfusions and increased gastrointestinal absorption. Endocrine dysfunctions are common in older children with TM and has been attributed to iron deposition in endocrine glands. The Authors report the clinical and histological findings of endocrine glands in a prepubertal girl with multiple endocrine complications secondary to iron overloadn died from cardiac failure. Variations in severity of the disease and therapeutic regimens may result in different incidence and types of complications It is emphasized the importance of chelating therapy to protect endocrine glands from haemosiderosis
LA “MENOPAUSA PRECOCE” IN UNA ADOLESCENTE
No full textLe irregolarità mestruali sono di frequente osservazione in età adolescenziale. L'amenorrea secondaria in questa fascia d'età, è prevalentemente dovuta a fattori nutrizionali, ambientali, a stress e a patologie croniche. Raramente è secondaria a deficit primitivo ovarico. (...
Severe hypercalcemia in a patient treated for hypoparathyroidism with calcitriol
No full textLong term administration of calcitriol (1,25 - dihydroxyvitamin D) is recommended for the treatment of a number of endocrine and renal disorders associated with impaired calcium - phosphate metabolism. Administration of calcitriol, however, may give rise to undesirable side effects, such as hypercalcemia and hypercalciuria. The magnitude of hypercalcemia is the key consideration in determining the need for immediate and aggressive therapy. There are four main strategies for lowering serum calcium: decreasing intestinal calcium absorption; increasing urinary excretion; decreasing bone resorption; and removing excess calcium through dialysis. We report on an adolescent with thalassemia who developed severe hypercalcemia during regular clinical follow-up for hypoparathyroidism treatment with calcitriol and calcium. He was also receiving levothyroxine for primary hypothyroidism and iron chelation therapy with desferioxamine mesylate for the severe iron overload
European Conference - Diagnosis and Treatment of Central Precocious Puberty: State of the Art 1999 - Pisa, Italy, December 3-4, 1999 - Foreword
No full textVertebral collapse in thalassemia intermedia: case report.
No full textOver the last few decades, the use of regular blood transfusions and adequate iron chelation beginning in the first years of life has modified the clinical picture and the natural course of thalassemia major. With the rise in the average age of these patients new problems have emerged, in particular bone disease: osteopenia, osteoporosis and the increased risk of fractures have become important causes of morbidity in a population whose longevity is continuously increasing. The Authors describe the case of a 41 year old patient affected by clinical thalassemia intermedia who presented with vertebral collapse after mild trauma. The physiopathology of osteoporosis and vertebral fractures in thalassemic patients and related management is presented
Temozolomide-related hematologic toxicity
No full textTemozolomide (TMZ) is an oral alkylating agent used for the treatment of recurrent or newly diagnosed malignant gliomas with significant survival benefit. TMZ is generally well tolerated and safe. The most common side effects are mild to moderate, and are represented by fatigue, nausea, vomiting, thrombocytopenia, and neutropenia. However severe hematologic adverse events (HAEs), including myelodysplastic syndrome and aplastic anemia, have also been reported. In this review we present an overview of the available literature of HAEs after exposure to TMZ. © 2013 S. Karger GmbH, Freiburg
Paraplegia in a thalassaemic patient with short stature
No full textExtramedullary hematopoiesis (EMH) is a normal compensatory reaction that occurs in almost all chronic hemolytic anemia, especially in transfusion independent thalassemia intermedia, and can involve many organs or tissues, including the epidural space leading to spinal cord compression syndrome. We present a case of EMH in a 29 year old woman with thalassemia major, regularly transfused since the time of diagnosis (age 21 months), who presented with sudden muscle weakness, difficulty walking and maintaining the upright position. Magnetic Resonance Imaging (MRI) of the thoracic spine showed spinal cord compression secondary to extramedullary hematopoiesis in the spinal canal, leading to early therapy. The neurosurgical treatment (decompressive laminectomy D3-D6) in our patient brought a significant and rapid recovery. The next two MRI of the spine (after 6 and 18 months) were both negative for recurrence
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