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1.
J Clin Med Res ; 16(4): 155-163, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38715563

RESUMEN

Background: Biliary complications are frequent in patients with acromegaly. These complications may be secondary either to acromegaly or to somatostatin analogs (SAs). We aimed in this paper to assess the prevalence of biliary complications in patients with acromegaly at diagnosis and after treatment with SAs. Methods: We conducted an analytical and descriptive retrospective study of 26 patients followed up for acromegaly over 7 years. Biliary complications were screened at diagnosis and follow-up by abdominal ultrasound, biliary magnetic resonance imaging (MRI), and endoscopic ultrasonography (EUS). Data were analyzed using SPSS 21. Results: The mean age of the patients was 49.6 ± 14 years, with a female predominance (53.8%). The evaluation of biliary complications showed vesicular biliary tract lithiasis and/or sludge in seven patients (29%), including two patients at the time of diagnosis of acromegaly and five patients after an average medical treatment duration of 3 years. Six female patients (24%) had dilation of the bile ducts without the presence of obstruction on biliary MRI and EUS and lithiasis/sludge of the common bile duct, tumor or external compression have been excluded. This condition was discovered incidentally at the diagnosis in five patients and during the follow-up in one patient. The preoperative insulin-like growth factor 1 (IGF-1) levels, disease duration, and female sex were significantly correlated with biliary tract dilation occurrence. Dyslipidemia, the preoperative IGF-1 level, and lanreotide treatment duration were significantly correlated with the occurrence of biliary lithiasis (P < 0.05). Conclusion: Biliary stones are a frequent biliary adverse effect in patients with acromegaly undergoing SAs treatment. However, primary bile duct dilation has never been reported in acromegaly to the best of our knowledge. This condition could be considered as a complication or a feature of the disease.

2.
Int J Clin Pharmacol Ther ; 62(6): 278-283, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38431828

RESUMEN

INTRODUCTION: Malignant insulinoma is a rare neuroendocrine tumor responsible for excessive insulin secretion and life-threatening hypoglycemia episodes. Computed tomography (CT) of the abdomen can identify a pancreatic tumor corresponding to insulinoma. Loco-regional metastases define the metastatic cases. The first-line therapeutic approach is surgery, while other medical treatments like diazoxide and everolimus play also a role. These treatments have shown efficacy in regulating blood glucose and, to some extent, controlling tumor progression. CASE PRESENTATION: We present the case of a 48-year-old female who was admitted for severe hypoglycemia episodes. She presented neuroglycopenic symptoms without any other clinical features. High levels of C-peptide and insulin during severe hypoglycemia confirmed the presence of endogenous hyperinsulinism. The CT scan of the abdomen confirmed the existence of an insulinoma along with several hepatic metastases. Surgery was proposed as a first-line approach. However, due to the persistent occurrence of severe hypoglycemia episodes, other treatment options were necessary such as diazoxide and everolimus. Diazoxide caused a significant improvement in the patient's blood glucose levels. Nonetheless, glycemic control was unsustainable, obligating the switch to everolimus, which showed better control of blood glucose levels with challenging management due to the appearance of grade 3 stomatitis as a side effect. The patient died 1 year after the diagnosis due to tumor progression. CONCLUSION: Balancing the benefits of enhanced glycemic control with the difficulties posed by side effect management of everolimus underscores the need to carefully consider both efficacy and potential adverse events.


Asunto(s)
Everolimus , Hipoglucemia , Insulinoma , Neoplasias Pancreáticas , Humanos , Femenino , Everolimus/uso terapéutico , Everolimus/efectos adversos , Insulinoma/secundario , Insulinoma/tratamiento farmacológico , Persona de Mediana Edad , Neoplasias Pancreáticas/tratamiento farmacológico , Hipoglucemia/inducido químicamente , Antineoplásicos/uso terapéutico , Antineoplásicos/efectos adversos , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/tratamiento farmacológico , Glucemia/efectos de los fármacos , Glucemia/metabolismo , Resultado Fatal , Diazóxido/uso terapéutico , Resultado del Tratamiento
3.
Int J Surg Case Rep ; 115: 109218, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38199020

RESUMEN

INTRODUCTION AND IMPORTANCE: Lymphocytic hypophysitis is an underestimated disease and the pathogenesis is still poorly elucidated. Post-coronavirus lymphocytic hypophysitis is a new emerging entity. CASE PRESENTATION: A 16-year-old previously healthy girl presented with pituitary tumor syndrome. She suffered from frontal headaches, polyuria-polydipsic syndrome, and impaired visual acuity. She was diagnosed with COVID-19 infection three weeks before. Contrast-enhanced magnetic resonance imaging (MRI) revealed pituitary enlargement with intense homogenous enhancement postgadolinium on T1 weighted images. The diagnosis of lymphocytic hypophysitis was made after ruling out other differential diagnosis. She was started on methylprednisolone. Improvement of clinical symptoms was seen on day 5 with a significant decrease in headache intensity. CLINICAL DISCUSSION: The article summarizes data from cases reported in the literature and our case to highlight coronavirus as a new trigger of lymphocytic hypophysitis. Despite the rarity of this complication, patients with a suspicion of hypophysitis after a recent COVID-19 infection should be carefully evaluated. CONCLUSION: COVID-19 infection can cause lymphocytic hypophysitis. However, it seems premature to conclude on the causal link between COVID-19 and endocrine diseases. Further studies on larger samples are needed to comprehend the pathogenesis of autoimmune endocrinopathies after COVID-19 infection.

4.
Int J Surg Case Rep ; 114: 109144, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38113568

RESUMEN

INTRODUCTION AND IMPORTANCE: Tuberculosis of the central nervous system is unusual and accounts for 1 % of all cases of tuberculosis in the world. The pituitary location is even scarcer. CASE PRESENTATION: A 14-year-old girl presented with polyuria-polydipsia syndrome and menstrual irregularity. MRI showed an intrasellar lesion of the pituitary gland. She underwent transsphenoidal surgery for histopathological diagnosis and removal of the lesion. Histological findings were consistent with a tuberculoma. She was put on anti-tuberculosis drugs and is being followed up. CLINICAL DISCUSSION: In endemic areas, pituitary tuberculosis should be considered in the differential diagnosis of pituitary tumors. The histological examination will guide the diagnosis. Sometimes, other complementary examinations such as the tuberculin skin test can be of great help when the histology is not conclusive. Medical treatment can be curative, however, surgery can be necessary for decompression. CONCLUSION: In addition to being the first case of histologically proven primary pituitary tuberculosis in a child reported in Morocco, the present case is unique in the way that the extensive radiological examinations did not reveal any evidence of other systemic or pulmonary tuberculosis.

5.
Clin Med Insights Endocrinol Diabetes ; 16: 11795514231208328, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37920173

RESUMEN

Objectives: Our study aimed to compare the efficacy of transdermal dihydrotestosterone and testosterone enanthate in treating idiopathic micropenis. Patients and methods: It's a comparative randomized study of 49 patients with idiopathic micropenis who are followed up in the Endocrinology-Diabetology and Nutrition Department of Mohammed VI University Hospital Center of Oujda, Morocco. The study was conducted from December 2019 to April 2021. All patients received a clinical examination including measurement of penis size before and after hormonal treatment. The patients were divided into two random groups, each group received a different drug, the first arm was treated with transdermal dihydrotestosterone (27 patients) and the second arm was treated with testosterone enanthate (22 patients). The Trial registration number was researchregistry7745. Results: The majority of the patients were children. The mean age was 9.7 ± 4.4 years. In the first arm, the mean penile size increased from -2.42 SD to -0.7 SD with a gain of 2.37 cm on average. In the second arm, the mean size increased from -2.48 SD to -0.69 SD, with a gain of 1.82 cm on average. The increase in penile size in the first arm was significantly greater than in the second arm (P = .008). No side effects were detected in both arms. Discussion and conclusion: In the present study, we demonstrated the superiority of transdermal DHT compared to injectable exogenous testosterone in the treatment of idiopathic micropenis. According to the age subgroups, there was no significant difference between the 2 treatments in each age group.

6.
Cureus ; 15(10): e47993, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38034238

RESUMEN

Introduction Diabetic retinopathy (DR) is a severe complication of diabetes. It remains a major cause of visual impairment and blindness, especially in young people. It is a silent affection that only becomes symptomatic at the onset of complications. Our study aimed to estimate the prevalence of retinopathy in patients with type 1 diabetes mellitus (T1DM) and evaluate the associated risk factors in our population. Materials and methods A descriptive and analytical study, with a cross-sectional study involving 359 patients with type 1 diabetes, was followed up in the Department of Endocrinology, Diabetology, and Nutrition of the University Hospital Center Mohammed VI Oujda, Morocco. Data were collected from medical records and analyzed by binary logistic regression using IBM Corp. Released 2012. IBM SPSS Statistics for Windows, Version 21.0. Armonk, NY: IBM Corp. Results The average age of our patients was 24.2 ± 11.4 years. The mean duration of diabetes was 11.8±4.4 years. The average glycated hemoglobin (HbA1c) at admission was 10.1 ± 2.4%. DR was found in 30% of patients, including 28.6% with minimal non-proliferative diabetic retinopathy (NPDR), 19.1% with moderate NPDR, 19.1% with severe NPDR, and 33.3% with proliferative DR. Patients with diabetic retinopathy appear to have a longer duration of diabetes (13.05±9.05 vs. 10.6±8.07 years). The longer duration of diabetes, neuropathy, and nephropathy was significantly associated with diabetic retinopathy (p=0.02, p=0.002, and p=0.0001, respectively). Conclusion The frequency of diabetic retinopathy increases with age, poor glycemic control, and the duration of diabetes. Therefore, cooperation between diabetologists and ophthalmologists is essential for making an early diagnosis and providing early treatment.

7.
Int J Surg Case Rep ; 109: 108547, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37517253

RESUMEN

INTRODUCTION AND IMPORTANCE: Phaeochromocytomas and paragangliomas are rare neuroendocrine neoplasms that grow outside the adrenal gland and arise from the primitive neural crest cells. The retroperitoneal location is extremely rare with an incidence of 2-8 per million. CASE PRESENTATION: Here we report a case of an 80 years old man presenting with abdominal pain and vomiting associated with hypertensive peaks and weight loss. CT scan showed a retroperitoneal para-aortic tumor invading the inferior vena cava, with significantly elevated urinary catecholamine levels. Histopathological and immunohistochemistry examinations confirmed the diagnosis of paraganglioma. A medical preparation by alpha-blockers was performed. Complete resection of the tumor with the reconstruction of the vena cava was achieved without postoperative complications. After surgery, blood pressure and HbA1c were on the targets and the urinary catecholamine levels were normal. CLINICAL DISCUSSION: The diagnosis of paragangliomas is suspected by clinical symptoms in the case of functional paragangliomas and the confirmation is biological by the plasmatic or urinary catecholamines. Non-functional paragangliomas often represent a diagnostic challenge. In our case, the large size, the location of the tumor, and the invasion of adjacent structures represented a surgical challenge to perform a complete resection. CONCLUSION: In the elderly, this pathology is quite uncommon. Retroperitoneal paraganglioma is a rare location of this type of tumor. Endocrinologists, surgeons, and anesthesiologists should work together to ensure an appropriate diagnosis and treatment of paraganglioma. The gold standard treatment is the complete resection after a medical preparation.

8.
Cureus ; 15(6): e40502, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37461775

RESUMEN

Fahr's syndrome is defined by the presence of striato-pallido-dentate calcifications. It is a rare entity with clinical polymorphism, and it occurs in patients with dysparathyroidism, especially those with hypoparathyroidism. It must be distinguished from Fahr's disease (FD), which is defined by the presence of intracerebral calcifications without phosphocalcic metabolism abnormality. In this paper, we report the particulars of five patients diagnosed with Fahr's syndrome revealed by neurological and cognitive disorders, seizures, and abnormal movements associated with tetany crisis. In all cases, brain imaging and biological examinations led to the diagnosis of Fahr's syndrome related to hypoparathyroidism. The evolution was favorable after treatment. Fahr's syndrome is a rare and serious condition for which treatment is simple and effective. Our observations shed light on the necessity of evaluating phosphocalcic metabolism and exploring cerebral calcifications in patients with neurological disorders.

9.
Int J Surg Case Rep ; 107: 108376, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37269766

RESUMEN

INTRODUCTION AND IMPORTANCE: Non-functional pituitary carcinoma is a rare neuroendocrine tumor. It is characterized by the presence of cerebrospinal or distant metastasis of an adenohypophysis tumor without any hypersecretion. Only a few cases of non-functional pituitary carcinomas have been reported in the literature. CASE PRESENTATION: In this paper, we report the case of a 48-year-old female patient who presented with spinal pain and a mass facing the second thoracic vertebrae. Spinal magnetic resonance imaging (MRI) revealed the presence of pituitary and bilateral adrenal incidentalomas. The patient was operated and the histopathological examination of the specimen revealed a non-functional pituitary carcinoma variety "Null Cell". DISCUSSION AND CONCLUSION: There are no clinical, biological, or radiological characteristics that reliably differentiate between non-functional pituitary adenoma and non-functional pituitary carcinoma. Management remains a challenge for clinicians and neurosurgeons. A combination of surgery, chemotherapy, and radiotherapy seems necessary to achieve tumor control.

10.
Rev Diabet Stud ; 19(1): 8-13, 2023 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-37185052

RESUMEN

Introduction: Insulin pump therapy is recommended more and more to achieve and maintain optimal glycaemic control in patients with type 1 diabetes mellitus. The objective of our study was to evaluate the satisfaction of patients using insulin pump therapy and to determine its effectiveness in improving metabolic control in type 1 diabetic patients. Patients-Methods: This is a retrospective, descriptive and analytical study including 20 type 1 diabetic patients treated by insulin pump, between 2017 and 2021. All patients received a clinical evaluation, analysis of capillary blood glucose monitoring and a dosage of HbA1c at the time of the start of insulin pump and during the evolution. Insulin pump satisfaction was assessed using the Diabetes Treatment Satisfaction Questionnaire (DTSQ). Statistical analysis was performed by SPSS version-21. Results: The mean age of the patients was 16,8 ± 8,1 years with a sex ratio (M/F) of 0,42. Thirty per-cent were children. The mean duration of diabetes was 5,8 ± 4,8 years. Seventy-five per-cent of patients practiced functional insulin therapy. The indications for insulin pump treatment were mainly hypoglycaemia and instable diabetes. During follow-up, we found a statistically significant decrease in insulin requirements, improvement in mean HbA1c and maintenance of glycaemic control during follow-up, with a marked reduction in the number of hypoglycaemia events per week. The overall satisfaction score was calculated at 34,6 ± 2,5 out of 36 with a decrease in the score for perception of hyperglycaemia or hypoglycaemia. Conclusion: Insulin pump therapy appears to be reliable and effective when used appropriately, combined with appropriate therapeutic education and glycaemic monitoring to maintain long-term glycaemic control and improved quality of life.


Asunto(s)
Diabetes Mellitus Tipo 1 , Hipoglucemia , Niño , Humanos , Recién Nacido , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hemoglobina Glucada , Glucemia/metabolismo , Calidad de Vida , Estudios Retrospectivos , Automonitorización de la Glucosa Sanguínea , Control Glucémico , Satisfacción del Paciente , Insulina , Insulina Regular Humana/uso terapéutico , Satisfacción Personal , Hipoglucemiantes/uso terapéutico
11.
Rev Diabet Stud ; 19(1): 1-7, 2023 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-37185054

RESUMEN

Background: Type 1 diabetes mellitus (T1DM) incidence is currently increasing worldwide, and different environmental players along with genetic predisposition, could be involved as powerful triggers of this disease onset. In this study, we aim to shed the light on the relationship between 25OHD deficiency and T1DM. Patients and methods: A case-control study was laid out to compare serum 25OHD level between T1DM patients and controls. A total of 147 T1DM patients aged under 19 years old were recruited from our Endocrinology-Diabetology and Nutrition department between October 2014 and December 2019. A total of 147 controls were randomly enlisted from clinical biochemistry laboratory of our center, and were carefully matched. The levels of 25OHD in the serum were determined in T1DM patients and nondiabetic controls. Results: Average serum 25OHD concentration was established in both groups; reaching 19,29 ±6,13 ng/ml in the control arm and 15,02 ± 6,48 ng/ml in the selected group with T1DM independently of the disease duration. However, the mean serum 25OHD concentration was not significantly different between the two T1DM subgroups according to diabetes duration below or above 5 years, and 25OHD concentration remained lower either in winter or summer months. A negative correlation was noticed between HbA1c and serum 25 OHD concentration in T1DM patients and was statistically significant (p<0,05). Conclusion: Key messages on the importance of vitamin D status, particularly in diabetic children and adolescents, should be spread widely in order to start a suitable vitamin supplementation, and establish guidelines regarding its timing at adequate recommended doses..


Asunto(s)
Diabetes Mellitus Tipo 1 , Deficiencia de Vitamina D , Humanos , Niño , Adolescente , Anciano , Adulto Joven , Adulto , Vitamina D , Diabetes Mellitus Tipo 1/epidemiología , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/epidemiología , Estudios de Casos y Controles , Vitaminas
12.
Rev Diabet Stud ; 18(3): 140-145, 2022 09 28.
Artículo en Inglés | MEDLINE | ID: mdl-36309775

RESUMEN

OBJECTIVE: Non-alcoholic fatty liver disease (NAFLD) is recognized as a common cause of chronic liver disease worldwide. Its association with type 2 diabetes mellitus (T2DM) is known to increase the risk of degenerative complications of diabetes and the likelihood of developing severe hepatic injuries. The objective of this study was to assess the prevalence of NAFLD and to describe the characteristics of its association with T2DM. METHODS: This was a descriptive analytical study, involving patients with T2DM with no history of alcohol consumption, viral hepatitis, hepatotoxic medications, or other chronic liver diseases. The patients underwent an investigation of NAFLD including abdominal ultrasound, non-invasive biomarkers of liver fibrosis, elastography and ultrasound-guided liver biopsy. RESULTS: We collected data from 180 patients with a mean age of 59.3 ± 10.9 years with strong female predominance. The mean duration of diabetes progression was 9.2 ± 7.3 years. Hepatic sonography showed signs of NAFLD in 45.6% of cases. Non-invasive hepatic biomarkers indicated significant fibrosis in 18.3% of cases. Overall, 21% of patients underwent an elastography evaluation, revealing severe fibrosis or cirrhosis in 15.4% of patients. The diagnosis of NASH (Non-alcoholic steatohepatitis) was confirmed histologically in 3 patients. The overall prevalence of NAFLD was 45.6%. Patients with NAFLD had a statistically significant incidence of obesity, metabolic syndrome, hypertension, dyslipidemia, macrovascular complications, and hypertriglyceridemia (p < 0.05). CONCLUSIONS: The combination of NAFLD and T2DM is often found in patients with obesity or metabolic syndrome. The presence of NAFLD can be responsible for increased morbidity and important cardiovascular risks in patients with T2DM.


Asunto(s)
Diabetes Mellitus Tipo 2 , Síndrome Metabólico , Enfermedad del Hígado Graso no Alcohólico , Humanos , Femenino , Persona de Mediana Edad , Anciano , Masculino , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Estudios Transversales , Síndrome Metabólico/complicaciones , Prevalencia , Factores de Riesgo , Cirrosis Hepática/complicaciones , Cirrosis Hepática/epidemiología , Obesidad/complicaciones
13.
Int J Pediatr Adolesc Med ; 9(2): 98-103, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35663783

RESUMEN

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients. Methods: Twenty suspected MODY patients were screened for HNF1A and GCK mutations using Sanger sequencing and MLPA methods. Segregation analysis of identified mutations was performed among family members. The pathogenic nature of missense variants was predicted using bioinformatic tools. Results: A total of two mutations were revealed among all patients raising the diagnostic rate to 10%. We identified a large novel GCK deletion (c.209-?_1398+?del) by MLPA in one patient and a previously reported missense substitution (c.92G > A) in HNF1A gene. Conclusion: This is the first investigation to perform the molecular diagnosis of MODY suspected patients. Our findings constitute a primary contribution towards unraveling the genetic landscape involved in the pathogenesis of MODY disease in Morocco.

14.
Artículo en Inglés | MEDLINE | ID: mdl-35670257

RESUMEN

Summary: Cushing's disease or pituitary adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome is considered a rare condition. It is caused by hypersecretion of the ACTH by a pituitary adenoma that ultimately induces endogenous hypercortisolism by stimulating the adrenal glands. It is responsible for significant morbidity and mortality. The clinical signs and symptoms of hypercortisolism are usually common and non-specific including obesity, moon face, hypertension, hirsutism and facial plethora. The association between Cushing's disease and calcinosis cutis which is defined as dystrophic calcium deposition in the skin and subcutaneous tissues is extremely rare. To the best of our knowledge, it has never been described previously in humans, probably like a symptom or complication of chronic and severe hypercortisolism. In this paper, we report a case of a 30-year-old female diagnosed with Cushing's disease and presented bilateral leg's calcinosis cutis complicated with ulceration. The evolution was favorable and the complete cicatrization was obtained 12 months following the suppression of systemic glucocorticoid excess. Learning points: Calcinosis cutis is common in autoimmune connective diseases. However, to our knowledge, it has never been reported in humans with Cushing's disease. Given the rarity of this association, the diagnostic approach to calcinosis cutis must exclude the other etiologies. Calcinosis cutis is challenging to treat with no gold standard therapy. In our case, the use of the combination of colchicine and bisphosphonates does not significantly improve the patient's outcomes. In fact, we suppose that without treating the endogenous hypercortisolism, the calcinosis cutis will not resolve.

15.
J Pediatr Endocrinol Metab ; 35(9): 1215-1221, 2022 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-35670320

RESUMEN

OBJECTIVES: We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. CASE PRESENTATION: We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7 months and 1 year 6 months, respectively, with abnormal sexual development, micropenis and cryptorchidism. Genetic analysis revealed a homozygous deletion of approximately 4 bp encompassing exon 10 of the LHR gene in the two brothers indicating autosomal recessive inheritance. An hCG stimulation test induced testosterone secretion within the normal range. Subsequently, a treatment with enanthate of testosterone was started, with an increase in the length of the penis. CONCLUSIONS: Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the LHCGR gene in two Moroccan brothers in whom the clinical features and the molecular diagnosis were correlated.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Receptores de HL , Trastorno del Desarrollo Sexual 46,XY/genética , Homocigoto , Humanos , Masculino , Mutación , Receptores de HL/genética , Receptores de HL/metabolismo , Eliminación de Secuencia , Testículo/anomalías , Testosterona
16.
Ann Med Surg (Lond) ; 78: 103673, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35592826

RESUMEN

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease. The diagnosis of the classic virilizing form must be made at birth. Case presentation: We report the case of a 16-year-old female patient, who consulted for primary amenorrhea and absence of breast development, in whom the clinical examination found a male morphotype, signs of virilization with a peniform hypertrophy of the clitoris. Pelvic ultrasound confirmed the presence of the uterus and ovaries. A syacthen test on 17 hydroxy-progesterone was performed confirming the diagnosis of congenital adrenal hyperplasia by partial 21-hydroxylase deficiency. The treatment was based on hydrocortisone and spironolactone with a decrease in hairiness and a breast development after 3 months. Discussion: The principal aim of the management at adolescent age is to block hyperandrogenism and to prevent or manage the complications of classic form and its treatment. The treatment must be completed by a feminization surgery which constitutes a great challenge given the necessity of participation of a gynecologist and a pediatric surgeon experienced in the surgery of anomalies of sexual development. Conclusion: This rare case of anomaly of sexual development discovered at an adolescent age with all the obstacles and difficulties of its management allows to put the point on the necessity of a good clinical examination at birth and the early management of any anomaly of sexual development.

17.
Ann Med Surg (Lond) ; 77: 103592, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35638017

RESUMEN

Introduction: Insular thyroid carcinoma (ITC) was defined as a rare malignant thyroid cancer standing in an intermediate position between the well-differentiated (papillary and follicular) and the anaplastic thyroid carcinomas. The incidence was estimated around <1% and 10% worldwide. Despite its rarity, it remains the main cause of death from non-anaplastic follicular cell-derived thyroid cancers. Case presentation: A 27-year-old single male admitted for a history of a thyroid nodule and intrathoracic extension; with local mass effect, deviating the brachiocephalic trunk to the right. He underwent a total thyroidectomy. Histopathological examination showed a poorly differentiated insular thyroid carcinoma. Radioactive iodine-131 therapy was administred at a dose of 100 mCi, and the patient was maintained on TSH-suppressive therapy. Ultrasensitive Thyroglobulin measurement after thyroxine withdrawal, taken 2 years after radioactive iodine treatment was undetectable as well as thyroid antithyroglobulin antibodies. Conclusion: Our clinical case would enrich the global registry of insular thyroid carcinomas' cases. The main challenge is early detection, aggressive intervention, and close follow-up of affected patients. The advancement in ultra-deep sequencing technologies, will contribute in the development of novel targeted therapies aiming to reduce morbidity and mortality and improve the outcomes in PDTC patients as well.

18.
Ann Med Surg (Lond) ; 78: 103710, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35600196

RESUMEN

Background: Long-term glucocorticoid (GC) use is the most frequent cause of adrenal insufficiency through suppression of the hypothalamic-pituitary-adrenal axis. There are no guidelines for predicting adrenal insufficiency (AI) and minimizing its risk. Methods: This is a prospective observational study carried out in the Endocrinology-Diabetology and Nutrition department between 2014 and 2021. All patients had received GC therapy for longer than 3 weeks before switching to hydrocortisone substitution, for various indications. These patients were admitted to our department for stimulation tests. We assessed the prevalence of AI, predicting factors, screening and management. Results: In our study the GC-induced AI was found in 49% of patients. We found a strong correlation between the basal morning serum cortisol, body mass index and the peak cortisol level after stimulation tests, while no correlation was found between adrenal function and age, sex, indication of GC therapy, duration of corticosteroid therapy, cumulative dose and daily dose. Patients with GC induced AI took a mean of 12 ± 12,18 months to recover. Adrenal function recovery rate was higher in patients tested by short Synacthen than in those tested by Insulin Hypoglycemia. Conclusions: We demonstrated the positive correlation between serum cortisol peak levels after stimulation and body mass index. The study supports that basal cortisol level, the duration of corticoid cessation and the type of stimulation test can predict the response of cortisol to stimulation tests.

19.
Ann Med Surg (Lond) ; 75: 103422, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35386796

RESUMEN

Introduction: Teratoma is a germ cell tumor, deriving from totipotent cells. Teratomas usually occur in gonads and are rarely extra-gonadal. The adrenal location is exceptional. Only few cases of primary adrenal teratomas have been reported in literature, mainly in young patients. Case report: We report the case of a 56-year-old female patient who presented with pyrosis, dyspepsia and abdominal pain that was evolving for 5 months. The abdominal computed tomography revealed a voluminous mass of the right adrenal gland and the hormonal evaluation was normal. The patient underwent an open transperitoneal adrenalectomy and the histopathological examination of the specimen confirmed the diagnosis of mature teratoma. Discussion: Adrenal teratomas are commonly asymptomatic and their diagnosis depends mostly on radiologic findings. Malignant transformation is very rare. Surgical excision is the mainstay of treatment with a good prognosis. Conclusion: Open surgery should always be considered in large and adhering teratoma tumors of the adrenal gland. Some pathologic features and tumorigenesis of adrenal teratomas are not entirely elucidated, thus the importance of larger studies in order to comprehend this pathological entity.

20.
Ann Med Surg (Lond) ; 75: 103333, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35198182

RESUMEN

INTRODUCTION: Adrenal myelolipomas are rare non-functioning benign tumors composed of adipose and hematopoietic tissues. Most AMLs are discovered incidentally and represent the second most common adrenal incidentaloma. CASE PRESENTATION: A 58-years-old female patient, obese with a history of diabetes and blood hypertension presented with complaints of pain in the left flank. Abdominopelvic computed tomography showed a giant well-defined mass of the left adrenal gland with fat density suggesting adrenal myelolipoma. The patient underwent open left adrenalectomy. The pathological study confirmed the diagnosis of adrenal myelolipoma. DISCUSSION: Most AMLs are asymptomatic, remain stable in size, or grow slowly. Mass effect symptoms and spontaneous rupture are observed more in larger AMLs. The most common symptoms observed are abdominal discomfort/pain, hypochondrial pain, and flank pain. Most of the AMLs are discovered incidentally and the radiological features are accurate in diagnosing AML in up to 90% of the cases, CT is more sensitive for detection than other imaging modalities. The open surgery approach is the standard treatment of choice for giant AML (>10cm) while the minimally invasive approach has been used in only a few cases. CONCLUSION: The therapeutic management is discussed on a case-by-case basis. Surgical treatment is indicated for larger, symptomatic, or rapidly growing AMLs. Meanwhile smaller and asymptomatic AMLs are managed conservatively.

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