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1.
Transl Psychiatry ; 12(1): 318, 2022 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-35941105

RESUMO

The prosocial neuropeptide oxytocin is being developed as a potential treatment for various neuropsychiatric disorders including autism spectrum disorder (ASD). Early studies using intranasal oxytocin in patients with ASD yielded encouraging results and for some time, scientists and affected families placed high hopes on the use of intranasal oxytocin for behavioral therapy in ASD. However, a recent Phase III trial obtained negative results using intranasal oxytocin for the treatment of behavioral symptoms in children with ASD. Given the frequently observed autism-like behavioral phenotypes in Prader-Willi and Schaaf-Yang syndromes, it is unclear whether oxytocin treatment represents a viable option to treat behavioral symptoms in these diseases. Here we review the latest findings on intranasal OT treatment, Prader-Willi and Schaaf-Yang syndromes, and propose novel research strategies for tailored oxytocin-based therapies for affected individuals. Finally, we propose the critical period theory, which could explain why oxytocin-based treatment seems to be most efficient in infants, but not adolescents.


Assuntos
Transtorno do Espectro Autista , Síndrome de Prader-Willi , Administração Intranasal , Artrogripose , Transtorno do Espectro Autista/tratamento farmacológico , Anormalidades Craniofaciais , Humanos , Hipopituitarismo , Deficiência Intelectual , Ocitocina/uso terapêutico , Síndrome de Prader-Willi/tratamento farmacológico , Projetos de Pesquisa
3.
Cells ; 11(13)2022 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-35805171

RESUMO

Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic forms of CPHD. However, the etiology of around 85% of the cases remains unknown. The aim of this study was to unveil the genetic etiology of CPHD due to congenital hypopituitarism employing whole exome sequencing (WES) in two newborn patients, initially tested and found to be negative for PROP1, LHX3, LHX4 and HESX1 pathogenic variants by Sanger sequencing and for copy number variations by MLPA. In this study, the application of WES in these CPHD newborns revealed the presence of three different heterozygous gene variants in each patient. Specifically in patient 1, the variants BMP4; p.Ala42Pro, GNRH1; p.Arg73Ter and SRA1; p.Gln32Glu, and in patient 2, the SOX9; p.Val95Ile, HS6ST1; p.Arg306Gln, and IL17RD; p.Pro566Ser were identified as candidate gene variants. These findings further support the hypothesis that CPHD constitutes an oligogenic rather than a monogenic disease and that there is a genetic overlap between CPHD and congenital hypogonadotropic hypogonadism.


Assuntos
Proteínas de Homeodomínio , Hipopituitarismo , Variações do Número de Cópias de DNA/genética , Proteínas de Homeodomínio/genética , Humanos , Hipopituitarismo/genética , Recém-Nascido , Sequenciamento Completo do Exoma
4.
Pan Afr Med J ; 42: 17, 2022.
Artigo em Francês | MEDLINE | ID: mdl-35812255

RESUMO

Septo optic dysplasia plus is a rare disease seen in children. Its diagnosis is radiological, based on brain magnetic resonance imaging (MRI). We report the case of a child aged 2 years and 4 months, with no particular pathological history; who consulted for psychomotor retardation, strabismus and low vision behavior. An endocrine biological assessment exploring the hypothalomo-pituitary function was carried out, revealing no abnormality. The diagnosis of septo-optic dysplasia plus was retained on the brain MRI data, in front of the agenesis of the septum pellucidum and of the splenium of the corpus callosum, the hypoplasia of the optic pathways and of the pituitary stalk as well as in front of the agenesis of the posterior pituitary. It was associated with a closed schizencephaly. Septo-optic dysplasia is a rare congenital malformation. Our objective is to recall its semiology in imaging and to underline the importance of MRI to establish the diagnosis. Septo-optic dysplasia is a rare clinical entity typically involving midline brain abnormalities, optic nerve hypoplasia, and pituitary insufficiency. The association with cortical malformations such as schizencephaly and polymicrogyria denotes the term septo-optic dysplasia plus. Advances in imaging currently allow early diagnosis, which is essential for adequate management. Antenatal ultrasound may suspect dysplasia, and brain MRI confirms the diagnosis.


Assuntos
Hipopituitarismo , Esquizencefalia , Displasia Septo-Óptica , Criança , Feminino , Humanos , Hipopituitarismo/complicações , Imageamento por Ressonância Magnética , Gravidez , Esquizencefalia/complicações , Esquizencefalia/patologia , Displasia Septo-Óptica/complicações , Displasia Septo-Óptica/diagnóstico , Displasia Septo-Óptica/patologia , Septo Pelúcido/anormalidades , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/patologia
5.
Probl Endokrinol (Mosk) ; 68(3): 50-56, 2022 Mar 24.
Artigo em Russo | MEDLINE | ID: mdl-35841168

RESUMO

AIM: To present a clinical case of reversible hypopituitarism due to hypophysitis developed after COVID-19 infection. MATERIALS AND METHODS: A patient with residual clinical manifestations of hypopituitarism underwent clinical evaluation at the time of symptoms of hypopituitarism and in follow-up. Morning serum cortisol (171-536 nmol/l) was measured by electrochemiluminescence immunoassay. Morning ACTH (7.2-63.3 pg/ml), prolactin (66-436 mU/l), TSH (0.25-3.5 mIU/L), fT4 (9-19 pmol/l) and fT3 (2.6-5.7 pmol/l) were measured by chemiluminescence immunoassay. Data were analyzed throughout the course of the disease. RESULTS: A 35-year-old female developed clinical symptoms of hypopituitarism two months after recovery from a confirmed COVID-19 infection. Laboratory investigation confirmed hypocorticism, hypothyroidism, hypogonadism and the patient was prescribed appropriate hormonal therapy in January 2021. Four months later the symptoms were alleviated (April 2021) and there were signs of recovery shown by imaging and hormonal: morning serum cortisol 227 nmol/l, morning ACTH 33.96 pg/ml, prolactin 68.3 mU/l, TSH 2.626 mIU/L, fT4 10.75 pmol/l, fT3 3.96 pmol/l. Thyroid hormone was discontinued, but hypogonadism and hypocorticism persisted with estradiol - 51.48 pmol/l, 24h urine cortisol level - 41.8 nmol/day. MRI results showed that the signs of hypophysitis were alleviated in comparison with MRI from January 2021. Full recovery of pituitary axis was reported in October 2021, with recovery of normal menstrual cycle. Furthermore, hormonal profile was likewise normal. CONCLUSION: This report provides evidence of delayed damage to the pituitary gland after infection with the COVID-19, with recovery of its function and structure. To date, the mechanisms of such an impact are not entirely clear; further collection of data on such cases and analysis is required.


Assuntos
COVID-19 , Hipogonadismo , Hipofisite , Hipopituitarismo , Hormônio Adrenocorticotrópico , Adulto , COVID-19/complicações , Feminino , Humanos , Hidrocortisona/uso terapêutico , Hipopituitarismo/complicações , Prolactina , Tireotropina
6.
Probl Endokrinol (Mosk) ; 68(3): 93-104, 2022 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-35841173

RESUMO

BACKGROUND: Cushing's disease (CD) is a rare disorder of a persistent cortisol excess caused by ACTH-secreting pituitary tumor (corticotropinoma). Transsphenoidal surgery (TSS) is a treatment of choice for СD, which effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. If surgical treatment is unsuccessful or recurrence appear, radiation treatment is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations. AIM: Analysis of remission and recurrence rates of pediatric CD after successful treatment according to preoperative MRI and therapeutic option. MATERIALS AND METHODS: We conducted a retrospective analysis of 90 pediatric patients with CD who were observed between 1992 and 2020 at the Endocrinology Research Centre. RESULTS: The most common clinical symptoms of CD were weight gain [94%] and growth retardation [72%]. Pituitary tumor was detected on radiological imaging in 53/90 patients [59%], there were no signs of visible adenoma in 37/90 of patients [41%]. 63 of 90 patients underwent TSS (70%), 27 patients underwent radiosurgery (30%). Remission rate after TSS was 71% [45/63], after radiosurgery - 85% [23/27]. There were no significant differences in remission rates after radical treatment according to preoperative MRI results (P=0.21 after TSS and P=0.87 after radiosurgery, х2 analysis). Recurrence after successful treatment was diagnosed in 10 patients. There were no significant differences in time to recurrence according to preoperative MRI results (P=0.055, х2 analysis). Time to recurrence was statistically different after TSS compared to radiosurgery (P=0.007, Kaplan-Meier analysis) and in the group with developed adrenal insufficiency in the early postoperative period (P=0.04, Kaplan-Meier analysis). Analysis of side effect of treatment showed that the frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery (р<0.01, Kruskel-Wallis ANOVA test). Diabetes insipidus was diagnosed only after TSS. CONCLUSION: Results of our study didn`t allow to use MRI-results as predictor of effectiveness treatment in pediatric CD. Therapeutic option has an impact on time to recurrence, not on recurrence rates. The frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery compared to TSS. Further studies are needed to identify predictors of remission and recurrence in CD.>< 0.01, Kruskel-Wallis ANOVA test). Diabetes insipidus was diagnosed only after TSS. CONCLUSION: Results of our study didn`t allow to use MRI-results as predictor of effectiveness treatment in pediatric CD. Therapeutic option has an impact on time to recurrence, not on recurrence rates. The frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery compared to TSS. Further studies are needed to identify predictors of remission and recurrence in CD.


Assuntos
Adenoma , Diabetes Insípido , Hipopituitarismo , Hipersecreção Hipofisária de ACTH , Neoplasias Hipofisárias , Criança , Hormônio do Crescimento , Humanos , Imageamento por Ressonância Magnética , Hipersecreção Hipofisária de ACTH/diagnóstico por imagem , Hipersecreção Hipofisária de ACTH/patologia , Hipersecreção Hipofisária de ACTH/cirurgia , Neoplasias Hipofisárias/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
7.
Front Endocrinol (Lausanne) ; 13: 925378, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35813618

RESUMO

Objective: primary empty sella (PES) represents a frequent finding, but data on hormonal alterations are heterogeneous, and its natural history is still unclear. Our aim was to evaluate the pituitary function of patients with PES over a long follow-up. Design: multicenter retrospective cohort study enrolling patients referred between 1984-2020 to five Pituitary Units, with neuroradiological confirmed PES and a complete hormonal assessment. Methods: we analyzed hormonal (including basal and dynamic evaluations), clinical and neuroradiological data collected at diagnosis and at the last visit (at least 6 months of follow-up). Results: we recruited 402 patients (females=63%, mean age=51.5 ± 16 years) with PES (partial, total, undefined in 66%, 13% and 21%, respectively). Hypopituitarism was present in 40.5% (hypogonadism=20.4%, hypoadrenalism=14.7%, growth hormone deficiency=14.7%, hypothyroidism=10.2%, diabetes insipidus=1.5%; multiple deficiencies=11.4%) and hypeprolactinemia in 6.5%. Interestingly, hormonal alterations were diagnosed in 29% of incidental PES. Hypopituitarism was associated with male sex (p=0.02), suspected endocrinopathy (p<0.001), traumatic brain injury (p=0.003) and not with age, BMI, number of pregnancies and neuroradiological grade. A longitudinal assessment was possible in 166/402 (median follow-up=58 months). In 5/166 (3%), new deficiencies occurred, whereas 14/166 (8.4%) showed a hormonal recovery. A progression from partial to total PES, which was found in 6/98 patients assessed with a second imaging, was the only parameter significantly related to the hormonal deterioration (p=0.006). Conclusions: this is the largest cohort of patients with PES reported. Hypopituitarism is frequent (40%) but hormonal deterioration seems uncommon (3%). Patients need to be carefully evaluated at diagnosis, even if PES is incidentally discovered.


Assuntos
Síndrome da Sela Vazia , Hipopituitarismo , Adulto , Idoso , Estudos de Coortes , Síndrome da Sela Vazia/complicações , Síndrome da Sela Vazia/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Hipopituitarismo/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
8.
Eur J Endocrinol ; 187(3): 373-381, 2022 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-35830276

RESUMO

Objective: To analyze the effectiveness and safety of growth hormone (GH) replacement treatment in adult patients with Langerhans cell histiocytosis (LCH) and GH deficiency (GHD) enrolled in KIMS (Pfizer International Metabolic Database). Patients and methods: Patients with LCH and GHD were studied at baseline and some of them after 1 year of GH treatment. The effectiveness of GH is presented as change after 1 year of treatment (mean, 95% CI). The LCH population was compared to two other groups of patients enrolled in KIMS, granulomatous and lymphocytic hypophysitis. Results: At baseline, 81 adults with LCH (27 with childhood onset, 56% females), mean age at GHD onset of 29 (15) years were studied. Diabetes insipidus was diagnosed in 86% of patients. Analysis of 1 year of GH treatment was possible in 37 patients. One-year cross-sectional values for the GH dose were 0.39 (s.d.± 0.21) mg and -0.5 (-1.2 to 0.2) for insulin-like growth factor-1 s.d. Total cholesterol decreased 0.9 (-1.5 to -0.3 (mmol/L); P < 0.05); AGHDA-QoL-score (n = 20) was improved by 2.8 points (-5.6 to 0.0; P < 0.05), while mean BMI increased 0.6 ± 3 kg/m2 (95% CI: -0.2 to 1.4). All these effects did not differ from the two other groups after adjusting for age, gender, and baseline values. In 20 of 77 patients included in the safety analysis, 36 serious adverse events were reported during 435 patient-years (82.8/1000); no new safety signals were reported. Conclusion: After 1 year of GH treatment in patients with LCH, metabolic variables and quality of life improved, with no new safety signals.


Assuntos
Nanismo Hipofisário , Histiocitose de Células de Langerhans , Hormônio do Crescimento Humano , Hipopituitarismo , Adulto , Criança , Estudos Transversais , Feminino , Histiocitose de Células de Langerhans/tratamento farmacológico , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipopituitarismo/tratamento farmacológico , Masculino , Qualidade de Vida
9.
Eur J Endocrinol ; 187(3): K19-K25, 2022 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-35895701

RESUMO

Objective: Since the outbreak of the COVID-19 pandemic, several cases of pituitary apoplexy (PA) following a SARS-CoV-2 infection have been described in several countries. Here, we describe a case series of PA occurring in the aftermath of a SARS-CoV-2 infection to alert physicians about possible neuro-endocrinological damage caused by the virus that can lead to visual sequelae and hypopituitarism. Design and methods: We retrospectively identified all the adult patients treated at Amiens University Hospital between March 2020 and May 2021 for PA confirmed by cerebral imaging and following an RT-PCR-confirmed SARS-CoV-2 infection. Results: Eight cases (six women, two men) occurred between March 2020 and May 2021 and were reviewed in this study. The mean age at diagnosis was 67.5 ± 9.8 years. Only one patient had a 'known' non-functional pituitary macroadenoma. The most common symptom of PA was a sudden headache. Brain imaging was typical in all cases. Only two patients required decompression surgery, whereas the others were managed conservatively. The clinical outcome was favorable for all patients but without recovery of their pituitary deficiencies. There was no diabetes insipidus. Conclusion: This case series, the largest in the literature, reinforces the strength, consistency, and coherence of the association between SARS-CoV-2 infection and PA. Our study provides support for the hypothesis that SARS-CoV-2 may be a new precipitating factor for PA. It is essential that practitioners be alerted about possible pituitary disease due to the virus so that such patients are recognized and appropriately managed, hence improving their prognosis.


Assuntos
COVID-19 , Hipopituitarismo , Apoplexia Hipofisária , Neoplasias Hipofisárias , Adulto , COVID-19/complicações , Feminino , Hospitais Universitários , Humanos , Hipopituitarismo/complicações , Masculino , Pandemias , Apoplexia Hipofisária/diagnóstico , Neoplasias Hipofisárias/cirurgia , Estudos Retrospectivos , SARS-CoV-2
10.
Medicine (Baltimore) ; 101(22): e29274, 2022 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-35665730

RESUMO

RATIONALE: Pituitary apoplexy occurs in about 8% of those with nonfunctioning pituitary adenoma. Subsequent hormone deficiency, especially corticotropic deficiency, is the most common finding. We describe the unusual manifestations of adrenal insufficiency that are usually overlooked in such cases, with the aim of raising awareness of this disease. PATIENT CONCERNS: A 53-year-old male with a history of hyponatremia came to our hospital with intermittent fever and generalized pruritic skin rash. He also reported general weakness, abdominal pain, poor appetite, and severe retroorbital headache. DIAGNOSES: Laboratory data revealed hypereosinophilia, hypotonic hyponatremia, and hypopituitarism, including secondary adrenal insufficiency. Sellar magnetic resonance imaging revealed a pituitary macroadenoma, 2 cm in height, with mild displacement of the optic chiasm. Pathologic report and immunohistochemical stains of surgical specimen showed pituitary gonadotropic adenoma with apoplexy. INTERVENTIONS: Transsphenoidal removal of the pituitary adenoma was performed. The patient received intravenous hydrocortisone then oral form cortisone acetate regularly. OUTCOMES: His symptoms and laboratory data recovered after the operation and medical treatment. LESSONS: This case highlights that eosinophilia, pruritic skin rash and fever can be manifestations of adrenal insufficiency, and that they may initially be regarded as cellulitis.


Assuntos
Adenoma , Insuficiência Adrenal , Eosinofilia , Exantema , Hiponatremia , Hipopituitarismo , Neoplasias Hipofisárias , Acidente Vascular Cerebral , Adenoma/complicações , Adenoma/diagnóstico , Adenoma/cirurgia , Insuficiência Adrenal/complicações , Celulite (Flegmão)/complicações , Eosinofilia/complicações , Exantema/complicações , Humanos , Hiponatremia/complicações , Hipopituitarismo/complicações , Hipopituitarismo/etiologia , Imageamento por Ressonância Magnética/efeitos adversos , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/cirurgia , Prurido , Acidente Vascular Cerebral/complicações
11.
Zhonghua Nei Ke Za Zhi ; 61(7): 836-839, 2022 Jul 01.
Artigo em Chinês | MEDLINE | ID: mdl-35764573

RESUMO

A 57-year-old woman was admitted to hospital with fever. She still had fever treated with multiple antibiotics, and no definite evidence for infection was found. Hypothermia and hypotension developed, and magnetic resonance imaging (MRI) examination showed enlarged anterior pituitary and multiple small nodular lesions with mild enhancement on the left side. Hormone replacement and anti-infection treatment were administrated, but fever did not improve. Remarkable lymphadenopathy was found in left supraclavicular area. The pathology of lymph node biopsy indicated peripheral T-cell lymphoma (not otherwise specified, NOS). Positron emission tomography-computed tomography (PET-CT) revealed hypermetabolism in multiple lymph nodes, infiltration of the liver and spleen. The final diagnosis were peripheral T-cell lymphoma with involvement of liver and spleen (stage Ⅳ) and anterior hypopituitarism. After chemotherapy, fever alleviated and the function of anterior pituitary recovered gradually.


Assuntos
Hipopituitarismo , Linfadenopatia , Linfoma de Células T Periférico , Feminino , Humanos , Hipopituitarismo/etiologia , Linfadenopatia/etiologia , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia Computadorizada por Raios X
13.
Pituitary ; 25(4): 551-562, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35710682

RESUMO

PURPOSE: Several surgical strategies have been proposed to treat MRI-negative Cushing's Disease. These include tumor removal, if identified, and if a tumor is not identified, resection of varying degrees of the pituitary gland, often guided by inferior petrosal sinus sampling (IPSS). The relative risks and benefits of each strategy have never been compared. METHODS: This systematic review of the literature included only studies on the results of surgery for MRI-negative patients with Cushing's Disease in which the surgical strategy was clearly described and associated remission and/or hypopituitarism rates detailed for each strategy. RESULTS: We identified 12 studies that met inclusion criteria for remission rates and 5 studies for hypopituitarism rates. We divided cases into 6 resection strategies. Remission and hypopituitarism rates for each strategy were: (1) tumor identified, resect tumor only (68%, 0%); (2) resect tumor and surrounding capsule (85%, 0%); and if the tumor was not identified (3) resect inferior 1/3 of gland (78%, no data); (4) resect 30-50% of gland based on IPSS (68%, 13%); (5) resect > 50% but < 100% of gland (65%, 9%); (6) resect entire gland (66%, 67%). Strategy 3 only contained 9 patients. CONCLUSION: Remission rates for MRI-negative Cushing's Disease support surgery as a reasonable approach. Results are best if a tumor is found. If a tumor is not identified, one can either remove one-third of the gland guided by IPSS lateralization, or remove both lateral portions along with the inferior portion leaving sufficient central gland to preserve function. Our recommendations are limited by the lack of rigorous and objective data.


Assuntos
Adenoma , Hipopituitarismo , Hipersecreção Hipofisária de ACTH , Neoplasias Hipofisárias , Adenoma/patologia , Hormônio Adrenocorticotrópico , Algoritmos , Humanos , Imageamento por Ressonância Magnética , Amostragem do Seio Petroso/métodos , Hipersecreção Hipofisária de ACTH/cirurgia , Neoplasias Hipofisárias/cirurgia
14.
Pituitary ; 25(4): 645-652, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35749012

RESUMO

PURPOSE: There is limited data regarding Pituitary Stalk Interruption Syndrome (PSIS) from India. Moreover, the pathophysiological link between perinatal events and PSIS is unclear. We aim to elucidate the predictors of PSIS among patients with growth hormone deficiency (GHD) and perinatal events in PSIS by comparing cohorts of PSIS and genetically proven GHD without PSIS. METHODS: Among 179 GHD patients, 56 PSIS and 70 genetically positive GHD (52-GHRHR, 15-POU1F1, and 3-PROP1) patients were included. Perinatal events, clinical anomalies, pituitary hormone deficiency, and imaging findings were recorded. We compared PSIS-isolated GHD (PSIS-IGHD) subgroup with GHRHR-IGHD and PSIS-combined pituitary hormone deficiency (PSIS-CPHD) subgroup with POU1F1/PROP1-CPHD. RESULTS: PSIS patients (45 males, median age: 12.5 years) most commonly presented with short stature. At last follow-up (median age: 17.35 years), gonadal (during pubertal-age), thyroid and cortisol axes were affected in 81.6%, 62.5%, and 62.5%. 10/13 (77%) of PSIS children with initial IGHD diagnosis manifested hypogonadism during pubertal age. Male predominance, sporadic presentation, and clinical anomalies were significantly higher in both PSIS subgroups than in the respective genetic subgroups. Breech presentation was higher in PSIS-CPHD than POU1F1/PROP1-CPHD (44.4% vs 5.5%, p = 0.004). Neonatal hypoglycemia (22% vs. 0%, p = 0.05) and jaundice (42 vs. 5%, p = 0.004) were higher in PSIS-CPHD than PSIS-IGHD. CONCLUSION: Later age at presentation and frequent hypogonadism were observed in our PSIS cohort. Male sex, sporadic presentation, clinical anomalies, and breech presentation predicted PSIS at presentation. Breech presentation in PSIS is likely due to stalk interruption rather than hormonal deficiency.


Assuntos
Apresentação Pélvica , Nanismo Hipofisário , Hipogonadismo , Hipopituitarismo , Nanismo Hipofisário/genética , Feminino , Humanos , Hipopituitarismo/genética , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Hipófise , Gravidez , Fatores de Transcrição/genética
16.
Front Endocrinol (Lausanne) ; 13: 756855, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35498411

RESUMO

Acromegaly is a systemic disease that requires multidisciplinary treatment to achieve the best clinical outcome. This study aimed to evaluate the outcomes of the endoscopic transsphenoidal approach (TSA) as the primary treatment for somatotroph adenomas and further investigate patients who had suboptimal surgical results. This retrospective study included 83 patients with somatotroph adenomas treated by TSA at our institution from 1999 to 2010. Biochemical remission was defined as hGH <1 and <2.5 ng/ml. Factors associated with failure of TSA and strategy of secondary treatments for refractory and recurrent disease were analyzed. The mean age of patients was 41.1 ± 11.3 years, and the mean follow-up time was 54.2 ± 44.3 months. Approximately 44.5% of patients had residual tumors after TSA. Larger tumor size, higher GH level before the operation, and the existence of residual tumors were associated with TSA failure. Forty-one patients had an inadequate response to TSA or a recurrent lesion, and of these patients, 37 had residual tumor after TSA. Octreotide results in good outcomes in the treatment of DGSA patients, and SRS/EXRT generates good results in treating patients who receive second treatments when remission cannot be reached 6 months after TSA operation.


Assuntos
Adenoma , Adenoma Hipofisário Secretor de Hormônio do Crescimento , Hipopituitarismo , Adenoma/cirurgia , Adulto , Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia , Humanos , Pessoa de Meia-Idade , Neoplasia Residual , Estudos Retrospectivos , Resultado do Tratamento
17.
BMJ Case Rep ; 15(5)2022 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-35609931

RESUMO

We report a rare case of intravascular large B-cell lymphoma (IVLBCL) with hypopituitarism and respiratory failure. A man in his 80s presented with hypotension and respiratory failure but was unsuccessfully treated for septic shock. Biological investigations were performed, and he was diagnosed with hypopituitarism due to insufficient secretion of anterior pituitary hormone. Although his condition temporarily improved following hormone replacement therapy, he eventually died of progressive respiratory failure. The lymphoma was only discovered during the autopsy, where it was observed to have spread to the pituitary gland and lung capillaries. Therefore, we concluded that the lymphoma had caused respiratory failure and hypopituitarism. The patient was thus diagnosed with IVLBCL posthumously. In conclusion, IVLBCL can cause hypopituitarism and respiratory failure due to pituitary and pulmonary capillary invasion by lymphoma cells.


Assuntos
Hipopituitarismo , Linfoma Difuso de Grandes Células B , Insuficiência Respiratória , Capilares/patologia , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiologia , Pulmão/patologia , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/patologia , Masculino , Insuficiência Respiratória/complicações
18.
Front Endocrinol (Lausanne) ; 13: 837025, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35547003

RESUMO

Objective: To evaluate the long-term outcomes and safety of endoscopic transsphenoidal surgery (ETS) in recurrent and residual pituitary adenomas (rrPAs), as well as the predictors of gross total resection (GTR) and intraoperative CSF leakage. Furthermore, to compare outcomes and complications with non-rrPAs cohort. Methods: Clinical and radiological characteristics of patients with rrPAs who underwent ETS were collected between 2017 and 2020. Data of patients with non-rrPAs were collected from 2019 to 2020. Logistic regression analyses were performed to investigate the factors influencing gross total resection (GTR) and intraoperative CSF leakage. Between-group comparisons of outcomes and complications were performed through propensity score analysis. Results: We enrolled 73 patients with rrPAs. GTR was achieved in 41 (56.1%) cases; further, GTR or near-total resection was achieved in 93.2% of patients. The mean tumor volumes for GTR and non-GTR cases were 6.2 ±7.2 cm3 and 11.1 ±9.1 cm3, respectively. Multivariate regression analysis of the GTR rate in patients with rrPAs revealed that Knosp grade was an independent factor (odds ratio [OR] = 0.324; p=0.005). Moreover, previous transcranial surgery and non-functional pituitary adenomas were risk factors for intraoperative CSF leakage in patients with rrPAs (OR=6.450, p=0.019 and OR=7.472, p=0.012, respectively). After propensity score matching, There was no significant difference in the GTR rate between patients with rrPAs and patients with non-rrPAs. Contrastingly, patients with rrPAs had a higher rate of intraoperative CSF leakage and longer postoperative hospital stay than patients with non-rrPAs. During the follow-up, vision improved in 9 (22.0%) and 24 (62.5%) patients with rrPAs and non-rrPAs, respectively. Although there was a trend that reoperation of rrPAs involved a lower hypopituitarism recovery rate and biochemical remission rate, as well as a higher hypopituitarism rate, there was no statistically significant between-group difference. Conclusions: Knosp grade was an independent factor for GTR in endoscopic transsphenoidal surgery in patients with rrPAs. Previous transcranial surgery and non-functional PAs were risk factors for intraoperative CSF leakage. Although associated with longer hospital stay, rrPAs did not associate with lower GTR rate or more frequent postoperative complications than non-rrPAs cohort.


Assuntos
Adenoma , Hipopituitarismo , Neoplasias Hipofisárias , Adenoma/patologia , Adenoma/cirurgia , Humanos , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia , Pontuação de Propensão , Estudos Retrospectivos , Resultado do Tratamento
19.
J Neurooncol ; 158(3): 423-433, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35593947

RESUMO

PURPOSE: Gamma Knife Radiosurgery(GKRS) is an established modality for treatment of non-functioning pituitary adenomas(NFPA). The objective of the study was to assess long-term hormonal and imaging outcomes after adjunctive GKRS in patients with NFPA. METHODS: A retrospective review of records of 109 patients with NFPA, from 1996 to 2020, who received adjunctive GKRS, was performed. Patients who had received GKRS as the primary modality of treatment for NFPA were not included. RESULTS: Sixty-three (57.8%) patients were available for follow up at our institute. The median follow-up period was 47 months (range, 6-260). At a median time of 38 months (range, 8-97), 25 (39.7%) patients developed ≥ 1 new pituitary hormone deficiency. Median time to cortisol deficiency was 38 months (range, 8-55), thyroid hormone deficiency was 45.5 months (range, 12-97) and gonadotropin deficiency was 45 months (range, 21-75). The actuarial risk of developing a new pituitary hormone deficit at 1, 3, 5, 7, and 10 years was 2.5%, 11%, 26.3%, 28% and 29.7%, respectively. Adenoma size decreased in 36 (57.1%) patients, remained unchanged in 19 (30.2%) patients, and increased in 8 (12.7%) patients. Overall tumor control rate was 87.3%. Endocrinopathy-Free Survival was 47.1%, and tumor Progression-Free Survival was 93.3%, at 5 years. Five (4.6%) patients required additional treatment after GKRS. One (1.6%) patient each had worsening of headache, optic atrophy and cerebellar infarct after GKRS therapy. CONCLUSION: GKRS offers a safe adjunctive treatment modality, with satisfactory long-term preservation of hormone functions and a high rate of tumor control, in patients with NFPA.


Assuntos
Adenoma , Hipopituitarismo , Neoplasias Hipofisárias , Radiocirurgia , Adenoma/diagnóstico por imagem , Adenoma/radioterapia , Adenoma/cirurgia , Seguimentos , Humanos , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/radioterapia , Neoplasias Hipofisárias/cirurgia , Radiocirurgia/métodos , Estudos Retrospectivos , Resultado do Tratamento
20.
Front Endocrinol (Lausanne) ; 13: 895054, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35600590

RESUMO

Glomus tumor is a rare mesenchymal tumor with an organ-like structure. Sellar glomus tumors are extremely rare with only six reported cases in the literature. Because of the lack of special clinical manifestations and imaging features, the disorder may be easily misdiagnosed as other sellar tumors, especially pituitary adenomas. Here, the present study showed a case of a 69-year-old male with hypopituitarism who was preliminarily misdiagnosed as non-functional pituitary adenoma.


Assuntos
Adenoma , Tumor Glômico , Hipopituitarismo , Neoplasias Hipofisárias , Adenoma/diagnóstico , Adenoma/patologia , Idoso , Erros de Diagnóstico , Tumor Glômico/diagnóstico , Tumor Glômico/cirurgia , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiologia , Masculino , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/patologia
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