scholarly journals Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Juliana Gabriel Ribeiro de Andrade ◽  
Antonia Paula Marques-de-Faria ◽  
Helena Campos Fabbri ◽  
Maricilda Palandi de Mello ◽  
Gil Guerra-Júnior ◽  
...  
Keyword(s):  
Motor Development ◽  
Gonadal Dysgenesis ◽  
Final Height ◽  
Pubertal Development ◽  
Good Prognosis ◽  
Long Term Follow Up ◽  
Associated Conditions ◽  
Partial Gonadal Dysgenesis

Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD.Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two boreNR5A1mutations. Main outcomes were: associated conditions, pubertal development, and growth.Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from −1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy.Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.

Infantile Hemangioma of the Posterior Fossa in a Newborn: Early Management and Long-Term Follow-up

2017 ◽  
Vol 48 (05) ◽  
pp. 378-381 ◽  
Author(s):  
Elsa Haine ◽  
Annick Sevely ◽  
Sergio Boetto ◽  
Marie-Bernadette Delisle ◽  
Claude Cances
Keyword(s):  
Posterior Fossa ◽  
Motor Development ◽  
Brain Magnetic Resonance Imaging ◽  
Infantile Hemangioma ◽  
Capillary Hemangioma ◽  
Complete Disappearance ◽  
Early Management ◽  
Long Term Follow Up

AbstractA 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance. Psychometric evaluation was performed at the age of 15 years, showing heterogeneous cognitive disabilities, with verbal abilities superior to nonverbal abilities and delayed motor development. Neurological examination was normal with no focal deficit. To our knowledge, this is the first published case reporting the long-term evolution of a patient with neonatal intracerebral hemangioma. We conclude that psychometric evaluations should be part of the long-term follow-up of children who have had an intracranial capillary hemangioma.

Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years

2017 ◽  
Vol 30 (7) ◽  
Author(s):  
Jessica D. Arditi ◽  
Loretta Thomaidis ◽  
Helen Frysira ◽  
Artemis Doulgeraki ◽  
George P. Chrousos ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
De Novo ◽  
Klinefelter Syndrome ◽  
Pubertal Development ◽  
Pediatric Endocrinology ◽  
Case Presentation ◽  
Long Term Follow Up ◽  
Chromosome Disorder

AbstractBackground:Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood.Case presentation:We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of theConclusions:This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels.

Comparison of two standard chemotherapy regimens for good-prognosis germ-cell tumors: Updated analysis of a randomized trial with 8 years follow-up

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 5016-5016
Author(s):  
P. S. Grimison ◽  
M. R. Stockler ◽  
D. B. Thomson ◽  
I. N. Olver ◽  
V. J. Harvey ◽  
...  
Keyword(s):  
Overall Survival ◽  
Germ Cell ◽  
Survival Benefit ◽  
Randomised Trial ◽  
Good Prognosis ◽  
Hazard Ratio ◽  
Standard Chemotherapy ◽  
Long Term Follow Up

5016 Background: We performed a multicentre randomised trial for good-prognosis germ-cell tumours of two standard chemotherapy regimens containing bleomycin (B), etoposide (E) and cisplatin (P). Accrual was stopped early, after interim analysis with a median follow-up of 33 months found a survival benefit for the regimen similar to Indiana University BEP, compared with the less dose-intense regimen (Toner, Lancet 2001). Here we report on long-term outcomes and patterns of relapse. Methods: Patients with a good prognosis defined by modified Memorial Sloan-Kettering criteria were randomised to 3B90E500P (3 cycles every 21 days of B 30 kU on days 1, 8 and 15, E 100 mg/m2 on days 1–5, and P 20 mg/m2 on days 1–5); or 4B30E360P (4 cycles every 21 days of B 30 kU on day 1, E 120 mg/m2 on days 1–3, and P 100 mg/m2 on day 1). Overall survival was the primary endpoint. Progression-free survival (PFS) was a secondary endpoint. All analyses were by intention-to-treat and with 2-sided p-values. Results: 166 patients were randomised, 83 to each regimen. Median follow-up is now 8.5 years and all but 5 have been followed ≥ 5 years. Overall survival remains substantially better with 3B90E500P than 4B30E360P (8YS 92% vs 83%, hazard ratio 0.38, 95% CI 0.15 to 0.97, p=0.037), and remains significant when analyses were restricted to 138 patients with good prognosis by IGCCCG criteria (p=0.035). Trends for PFS favour 3B90E500P but are not statistically significant (8YPFS 86% vs 79%, hazard ratio 0.6, 95% CI 0.3 to 1.1, p=0.15). 7 of 15 relapses occurring within 2 years after randomisation were fatal, but all 4 relapses occurring > 2 years after randomisation were fatal. Conclusions: The survival benefit of 3B90E500P compared to 4B30E360P was maintained with long-term follow-up. The occurrence of relapses beyond 2 years affirms the importance of long-term follow-up. Late relapses in this study were associated with uniformly poor outcomes. [Table: see text] No significant financial relationships to disclose.

scholarly journals Surgical Management for a Rare Pedunculated Left Ventricular Apical Lipoma: A Case Report and Review of Literature

2021 ◽  
Vol 8 ◽  
Author(s):  
Long Song ◽  
Chukwuemeka Daniel Iroegbu ◽  
Jinfu Yang ◽  
Chengming Fan
Keyword(s):  
Surgical Planning ◽  
Symptomatic Patient ◽  
Good Prognosis ◽  
Left Ventricular ◽  
Long Term Follow Up ◽  
Life Threatening ◽  
Surgical Options ◽  
Diagnostic Modalities

Cardiac lipomas, though extremely rare, are encapsulated tumors composed primarily of mature fat cells. Despite their benign character, cardiac lipomas can cause life-threatening complications by rapid growth. Cardiac lipomas, which are frequently located in the left ventricle (LV) or right atrium, can originate either from the subendocardium, subpericardium, or the myocardium. They are usually asymptomatic and carry a good prognosis during long-term follow-up; however, published reports show that untreated cardiac lipomas may be fatal when they cause arrhythmic or obstructive symptoms. In addition, several surgical options have been reported to obtain an appropriate operative view following poor visualization, primarily when tumors are located in the LV. Herein, we present a case of a pedunculated LV apical lipoma in a symptomatic patient successfully managed by surgical resection. We also discuss diagnostic modalities in surgical planning and the choice of surgical approach.

scholarly journals Transsexualism Ethiology and Medical Management: Between Scientific Evidence and Personal Experiences

2021 ◽  
Author(s):  
Mario Vetri ◽  
Alessia Cataldi ◽  
Adriano Naselli ◽  
Annalisa Vetri
Keyword(s):  
Scientific Evidence ◽  
Pubertal Development ◽  
Doctor Who ◽  
Cancer Risks ◽  
Personal Experiences ◽  
Long Term Follow Up ◽  
Opposite Sex ◽  
Do It Yourself

Gender Identity Dysphoria (GID) is a condition characterized by a strong and persistent identification with the opposite sex. These people consider themselves victims of a sort of biological accident: "a soul in a wrong body". There are numerous theories on the origin of transsexualism: genetic, hormonal and psychological causes have been hypothesized, but those currently most accredited are the neuroanatomical ones. The cornerstones of hormone conversion therapy (Gender Affirming Hormone Therapy, GAHT) are feminizing hormones for transgender women (MtFs) and virilizing for transgender males (FtMs). GID can be present among adolescents and older people. For adolescents is now accepted reversible treatment of puberty withdrawal with hormones that stops the progression of pubertal development in the biological direction not accepted; for elderly people is suggested GAHT in reduced doses. Physicians should consider and discuss with people with GID about fertility preservation, general and cancer risks. We present also data of 127 transsexual patients enrolled at the Garibaldi-Nesima Andrology Clinic in Catania (Italy) from 2003 to 2020. To optimize the conversion treatment with sex hormones, transsexuals require long-term follow-up. GAHT must be performed by a doctor who is familiar with these problems. Therefore, the “do-it-yourself” trend and the lack of medical and laboratory checks over time should be absolutely discouraged. Before proceeding with the surgical sex reassignment, it is recommended to refer to an endocrinologist and psychologist or psychiatrist for a period of 2-3 years. The transition surgical conclusion process must be practiced by a quality surgical team.

Pineocytomas: a long-term follow up study of four cases in Helsinki Neurosurgery

2019 ◽  
Vol 8 (1) ◽  
pp. 5
Author(s):  
Joham Choque-Velasquez ◽  
Julio C Resendiz-Nieves ◽  
Behnam Rezai Jahromi ◽  
Roberto Colasanti ◽  
Rahul Raj ◽  
...  
Keyword(s):  
Good Prognosis ◽  
Gross Total Resection ◽  
Benign Lesions ◽  
Total Resection ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Long Term Follow Up ◽  
Microsurgical Resection

Background: Pineocytomas are rare benign lesions with a relatively good prognosis if gross total resection can be achieved. Report of cases: We present a retrospective review of four patients with histologically confirmed pineocytomas consecutively operated on after 1997. All of our patients were alive at a mean follow-up of 224,5 months (range 204-246). A gross total resection was accomplished in all cases. The cornerstones for the surgical resection of pineocytomas are reported. Conclusions: A proper management of pineocytomas, based on the gross total microsurgical resection of the lesion, results in an excellent long term outcome of these pineal lesions.

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