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1.
Cureus ; 16(5): e60151, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38864044

RESUMO

Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic conditions such as neurofibromatosis type 1 (NF1) or von Hippel-Lindau syndrome. Cystic pheochromocytomas are rare, generally asymptomatic, and thus of bigger size at the time of diagnosis. Surgical treatment is necessary to prevent cardiovascular morbidity and malignancy risk. We report the case of a 27-year-old patient admitted for further examination of a left adrenal mass that was discovered by an abdominal CT scan in the context of abdominal pain associated with hypertension evolving for three years. The clinical examination showed the presence of multiple café au lait spots, axillary and inguinal freckling with two dermal neurofibromas diagnosed clinically, as well as Lisch nodules on bilateral ophthalmic examination, thus meeting the clinical criteria for the diagnosis of NF1. The clinical laboratory investigation showed elevated urinary metanephrine and normetanephrine levels. CT scan examination showed a 10 cm left adrenal cystic mass on abdominal CT. This mass uptake of the radioligand in metaiodobenzylguanidine (MIBG) scintigraphy without secondary extra-adrenal localization allowed the diagnosis of a seemingly benign cystic pheochromocytoma to be made. The patient was put on presurgical drug preparation with volume expansion and then underwent left unilateral adrenalectomy. The histopathological study was in favor of a rather aggressive cystic pheochromocytoma with a pheochromocytoma of the adrenal gland scaled (PASS) score of 9. Blood pressure and urine catecholamines at seven days, three months, six months, and one year after surgery were normalized. Cystic pheochromocytoma is a rare tumor with a potentially poor prognosis. It is characterized by a more insidious evolution and a larger volume at diagnosis. It should be considered a diagnosis in patients with a cystic adrenal mass or an extra-adrenal mass with fluctuating blood pressure during surgery. This case illustrates the importance of both presurgical preparation and screening for pheochromocytoma in neurofibromatosis type 1.

2.
Cureus ; 16(4): e59059, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38800272

RESUMO

Our article examines a rare case where hypothyroidism due to Hashimoto's thyroiditis progressed, after a long period (three years) of L-thyroxine substitution, into confirmed hyperthyroidism due to Graves' disease in a 69-year-old man. The article explores possible mechanisms of this unusual transition based on our case and others reported in the literature. Findings suggest that the coexistence of Hashimoto's thyroiditis and Graves' disease can lead to transitions between hypothyroidism and hyperthyroidism, influenced by the predominance of involved antibodies and residual capacity of thyroid tissue. The authors emphasize the importance of further studies to better understand these transitions and identify at-risk patients. In conclusion, the article highlights the necessity of considering the rare possibility of transition to Graves' disease in patients presenting with persistent hyperthyroidism despite cessation of L-thyroxine.

3.
Int J Endocrinol ; 2024: 7337895, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38655382

RESUMO

Objective: Hypoparathyroidism (HPt) is a rare endocrine disorder often of postsurgical origin, resulting in hypocalcaemia. Several complications have been described including impairment of quality of life (QoL). Our study aims to evaluate the effect of hypoparathyroidism on the QoL of patients diagnosed with HPt. Methods: A cross-sectional study was conducted in the Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition of the Hassan II University Hospital of Fez. We included in our study all patients followed for chronic HPt. Well-being was assessed using the WHO 5 index, and QoL was assessed by the SF-36 questionnaire in its validated Arabic version. Data were entered into Excel and analysed using SPSS 26. Multiple linear regression was utilized to ascertain the variables linked to the QoL in individuals diagnosed with HPt. Results: A total of 143 patients with HPt were included in the study, 86.7% of whom were female. The mean age of the patients was 44.6 ± 17.3 years. 89.9% were of postsurgical etiology. The assessment of well-being by the WHO 5 index showed a low score (<50), meaning poor well-being in 44.8%. Regarding the QoL, the assessment showed low scores in the areas of general health (41.7), limitations due to physical condition (40.5), vitality (41.4), and limitations due to psychological condition (42.6). The multiple linear regression model revealed a noteworthy association between low SF-36 score and advanced age (ß = -5.91; p < 0.001), surgical etiology (ß = 8.71; p < 0.001), low education level (ß = -10.1; p < 0.001), and poor compliance with medication (ß = -11.3; p < 0.001). However, the relationship between impaired QoL and achievement of normocalcemia was nonsignificant (p=0.69). Conclusions: Our work objective is that patients with HPt have a reduced and multifactorial QoL. Despite normocalcemia, it is hypothesized that parathyroid hormone directly influences QoL. These results could serve as a basis for future research.

4.
Cureus ; 16(2): e53779, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38469007

RESUMO

Tamoxifen, a selective estrogen receptor modulator (SERM), can have harmful side effects, such as hypertriglyceridemia, which can lead to acute pancreatitis. Meanwhile, triptorelin is an analog of natural GnRH (GnRHa), which may cause a small but significant increase in cholesterol and triglyceride (TG) levels. We describe below the case of a patient with breast cancer treated with Patey's operation, chemo-radiotherapy, and then with tamoxifen and triptorelin. After an exposure period of three months, she presented major hypertriglyceridemia at 56 g/L, total cholesterol at 13 g/L, LDL-cholesterol (LDL-C) at 4 g/L, and HDL at 0.25 g/L. The patient's treatment was stopped by her oncologist. One month after starting an adapted diet and fenofibrate, her TG levels were reduced to 2 g/L. We could confirm from these results that tamoxifen and triptorelin certainly modify lipid metabolism, hence the interest in evaluating the benefit-risk balance and regularly monitoring the lipid profile in order to avoid any fatal complication.

5.
Cureus ; 16(2): e53720, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38455785

RESUMO

Sarcomatoid carcinoma of the adrenal gland represents an exceedingly unusual and highly aggressive form of adrenocortical carcinoma. Its diagnosis is challenging because of its dual histological components: epithelial and sarcomatoid. Most patients are diagnosed at a late stage and die within months of diagnosis. We report on a 51-year-old man who had adrenocortical sarcomatoid cancer. It was diagnosed as a unilateral left adrenal incidentaloma discovered on a CT scan carried out for abdominal pain. By means of this case, we will present the clinical, radiological, and histological profile of this tumor.

6.
Case Rep Endocrinol ; 2024: 3865608, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38481612

RESUMO

Thyroid tuberculosis is a rare form of extrapulmonary tuberculosis, even in endemic countries such as Morocco; its precise incidence is not well-defined. The clinical presentation of thyroid tuberculosis can vary, often being asymptomatic. Consequently, the diagnosis may be overlooked or delayed. Intriguingly, thyroid tuberculosis can manifest alongside thyrotoxicosis due to Graves' disease, an exceptional association. This article reports a distinctive case of thyroid tuberculosis coexisting with Graves' disease, one of the autoimmune thyroid diseases. A 33-year-old female presented symptoms consistent with hyperthyroidism and bilateral exophthalmos. She was subsequently diagnosed with Graves' disease. Despite initially managed medically, recurrences of the disease led to definitive treatment by total thyroidectomy. Histopathological examination revealed concurrent presence of thyroid tuberculosis.

7.
Cureus ; 15(6): e40068, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37425549

RESUMO

A pheochromocytoma is an uncommon tumor that originates from the chromaffin cells of the adrenal medulla. Also, adrenal tissue not located in its typical position is referred to as ectopic adrenal tissue. It is relatively uncommon in adults and is usually asymptomatic. Therefore, a pheochromocytoma arising from ectopic adrenal tissue is even a rarer finding and presents as a unique diagnostic challenge. A 20-year-old man presented with vague abdominal pain, and upon imaging, a mass located behind the liver was initially discovered. Subsequently, it was identified as a mass growing in an ectopic adrenal gland. He underwent exploratory laparotomy and resection of the mass. A pheochromocytoma in an ectopic adrenal gland was confirmed by histopathology.

8.
Cureus ; 15(6): e41128, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37519544

RESUMO

Turner's syndrome is a rare complex genetic disease characterized by gonadal dysgenesis and sexual chromosomal abnormalities. Half of the patients affected are monosomic, for the X chromosome, and for the remaining patients, a variety of chromosomal abnormalities have been reported. Only a small percentage (3%-4%) of people with Turner syndrome have triple X cell line mosaicism (47, XXX). It has been reported that patients 45, X/47, XXX have normal intelligence, a higher rate of spontaneous menstruation, an increased number of pregnancies, and a lower frequency of short stature (60%) compared to patients 45, X. In this work, we will present a rare and atypical case of a patient who presents a rare chromosomal mosaicism, with three chromosomal lineages, contrasting with a typical clinical picture of Turner syndrome.

9.
Cureus ; 15(3): e36503, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37090336

RESUMO

Hibernoma is an infrequent benign lipomatous tumor that shows differentiation to brown fat. It is a slowly growing tumor of variable consistency but often firmer than a classic lipoma, mobile, and rarely infiltrating. To date, there are only a few cases of adrenal hibernoma in the literature. Herein, we report two cases. The first one is that of a 24-year-old female presenting with a bilateral adrenal incidentaloma discovered in the setting of abdominal pain whose histological study individualized a bilateral pheochromocytoma associated with a hibernoma. The second case is that of a young male of 23 years old. He was operated on in adolescence (age 14) for a left pheochromocytoma. The outcome was marked by the recurrence of the Menards triad ("headache, palpitations, and sweating") and hypertension at the age of 23 years. It was due to the appearance of a contralateral right pheochromocytoma, whose histological study showed an association with a hibernoma, and the genetic study revealed Von Hippel-Lindau (VHL) disease.

10.
Cureus ; 15(2): e34771, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36909110

RESUMO

Testicular agenesis, also called testicular regression syndrome (TRS), is a rare disease. It is defined by the complete absence of testicular tissue associated with a 46,XY karyotype. The phenotype is variable depending on when gonadal regression occurs in utero. Several etiologies have been identified. Here, we report two cases of TRS with an initial diagnosis of cryptorchidism and bilateral impalpable testes. The hormonal assessment showed an undetectable anti-Müllerian hormone (AMH) level and high gonadotropins. Also, radiological exploration did not show the testicles in a normal position, which was confirmed by a negative laparoscopy, establishing the diagnosis of TRS. Androgen replacement therapy along with psychological support to the patient is recommended is such cases.

11.
Cureus ; 15(1): e33638, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36788848

RESUMO

Oncocytic cell neoplasms are usually found in the thyroid or salivary glands and the kidneys. Adrenal oncocytoma (AO) is an extremely rare localization. It is often non-functional and the suspicion of malignancy is considered when the size of an adrenal incidentaloma is greater than 4 cm. These adrenal oncocytomas, however, are large, round, and encapsulated with a benign presentation and evolution. We report on a 40-year-old male patient. Upon suspicion of a SARS-CoV-2 infection, the general physician instructed a chest CT scan, which, fortuitously, revealed a suspicious left adrenal lesion measuring 62x45mm. A biochemical investigation was negative for either pheochromocytoma or Cushing's syndrome, allowing the recommended surgery to be performed. The anatomopathological analysis showed an uncommon benign adrenal lesion, an adrenal oncocytoma.

12.
Cureus ; 14(11): e31547, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36540468

RESUMO

Prolactinomas are usually benign tumors and are the most common type of secretory adenomas. Their diagnosis is well coded, and their severity depends on the tumor size identified by magnetic resonance imaging. The aim of this work is to study the epidemiological, clinical, paraclinical, and therapeutic profile of prolactinomas through a retrospective and descriptive study of 95 cases of prolactinomas conducted at the Endocrinology, Diabetology and Nutrition Department of the Hassan II University Hospital of Fez between January 2015 and November 2020. The mean age of patients in our series was 33.8 years (14-63) with a clear female predominance of 88.4%. Based on adenoma size, 37 cases were microprolactinomas and 58 cases were macroprolactinomas representing 38.9% and 61.1% respectively. Menstrual disorders were present in 50.5% of the women, and 68.4% had galactorrhea, while 44.2% of patients complained about local mass effects, especially headaches. The average size of adenomas was 15.7 mm (4-70 mm). The mean initial plasma prolactin (PRL) level was 423.2 ng/mL (103-7,663 ng/mL). Of our patients, 97.9% received medical therapy with dopamine agonists, particularly with cabergoline which represents the mainstay of therapy (85.3%), while 2.1% of patients underwent surgery due to resistance to treatment. In terms of evolution after treatment, three cases of resistance to treatment were reported. Thirty patients with microprolactinomas had a normalization of prolactin level within an average of five months, and we saw a regression of the size of the adenoma in 43.2% of patients, stabilization in 24.3% and a progression of the process in 5.4% of cases. Although in macroprolactinomas we found a normalization of prolactin level in 43 patients within an average of one year, the tumor syndrome disappeared in 31.6% of cases. Radiological monitoring also revealed a favorable tumor response in 82.7% of patients.

13.
Cureus ; 14(8): e27687, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36072183

RESUMO

Background and objective Gynecomastia is defined as a benign proliferation of male breast glandular tissue, either unilateral or bilateral, resulting from an imbalance of testosterone and estrogen. In this study, we aimed to describe the clinical, etiological, and therapeutic aspects of gynecomastia. Materials and methods A retrospective, descriptive study was conducted in the Department of Endocrinology, Diabetology, and Nutrition at the Hassan II University Hospital in Fez, Morocco, over a period of 10 years. We included all patients admitted for exploration and treatment of gynecomastia. The data were analyzed using Microsoft Excel 2016 and SPSS Statistics version 18 (IBM, Armonk, NY). Results A total of 86 patients were included in this study; the mean age of the patients was 33 years (range: 15-86 years). A family history of gynecomastia was found in 4.6%. Isolated gynecomastia was the most frequent symptom (60.4% of cases). It was bilateral in 54% of cases, stage II in 63% of patients, stage I in 17%, and stage III in 20%. The first-line assessment (renal insufficiency, hepatic insufficiency/cirrhosis, dysthyroidism) was normal in the majority of cases. The etiologies were dominated by hypogonadism in 32.6% of cases, pubertal gynecomastia in 21%, and senile gynecomastia in 8.1%. Regarding treatment, 42% of patients received an etiological treatment, while surgical treatment was provided in 28% of cases, observation in 15% of cases, and androgen therapy in 15%. Pathological examination of all surgical specimens was benign. The follow-up was marked by 30.3% of static gynecomastia, 29% of regression, 17.5% of good response after surgery, and 24.4% of treatment refusal. Conclusions It is important to adopt a step-by-step approach in treating gynecomastia, starting with detailed questioning and clinical examination. The surgical treatment is currently the treatment of choice, the final goal of which is good aesthetic as well as psychological outcomes.

14.
Cureus ; 14(8): e27634, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36072207

RESUMO

Adrenal ganglioneuroma (AGN) are sympathetic differentiated tumors that originate from neural crest cells. It is a rare benign tumor in children and young adults. These lesions are usually asymptomatic and tend to be hormonally silent. Their discovery is fortuitous in imaging examinations. Preoperative diagnosis remains difficult, and the gold standard treatment is adrenalectomy. There is a good prognosis after surgery without recurrence. We herein report a case of adrenal ganglioneuroma in a 40-year-old man who benefited from an abdominal CT scan in the face of a complaint of abdominal discomfort and as part of the extension assessment of his colonic adenocarcinoma. Abdominal CT scan with contrast showed a left retroperitoneal mass of triangular shape within the adrenal lodge of tissue density, containing some calcifications not enhanced after injection of contrast product, measuring 90 x 62 mm in diameter (AP x T) with a relative washout calculated at 30%. Biopsy and histological examination of the mass suggested an adrenal ganglioneuroma.

15.
Cureus ; 14(7): e27492, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36060320

RESUMO

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors developed from chromaffin cells. They are exceptional in children with an atypical symptomatology. We report here a case of a 17-year-old boy who presented with a left retroperitoneal mass discovered on thoracic-abdominal-pelvic computed tomography (CT) scan in the presence of diffuse abdominal pain, more pronounced in the left hypochondrium. The exploration had objectified an exclusive secretion of urinary normetanephrine over 24 hours. Metanephrine and 3 ortho methyldopamine were within normal limits. He had adrenalectomy after controlling his blood pressure with an alpha blocker. Histology had confirmed a pheochromocytoma of non-aggressive potential Pheochromocytoma of the Adrenal gland Scaled Score (PASS) 2. The evolution was favorable with normalization of blood pressure and urinary catecholamines at one week, three months, six months, and one year. He tested negative for hereditary syndromic including Von Hippel-Lindau (VHL), RET genes, subject to the succinate dehydrogenase complex B and D subunit genes (SDHB-D), which have been requested.

16.
Cureus ; 14(8): e27991, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36120227

RESUMO

Gynecomastia is benign hypertrophy of male breast glandular tissue, either unilateral or bilateral, secondary to increased estrogen/testosterone ratio (elevated estrogen level, decreased testosterone levels, or both). The condition can be related to a medical disease or caused by some drugs. Since the introduction of triple antiretroviral therapy (TAT), we have seen an improvement in the prognosis of human immunodeficiency virus (HIV) infection. Here we report the case of a 53-year-old man receiving follow-up care in Internal Medicine for HIV infection receiving TAT (tenofovir/efavirenz/emtricitabine). After one year, the patient presented in the Department of Endocrinology, Diabetology, Metabolic Diseases, and Nutrition of Hassan II University Hospital Center, Fez, with bilateral gynecomastia. Hormonal exploration did not reveal any abnormality, so the gynecomastia was attributed to efavirenz use. The regimen was replaced by tenofovir, lamivudine, and dolutegravir. The gynecomastia was resolved within two months of discontinuing efavirenz. In summary, we think that secondary gynecomastia should be suspected and screened in HIV patients receiving efavirenz-containing regimens.

17.
Ann Afr Med ; 21(2): 161-164, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35848650

RESUMO

Introduction: The standard gold treatment of primary hyperparathyroidism (PHP) is parathyroidectomy. Imaging in particular, cervical ultrasound (US) and technetium-99 m- méthoxyisobutylisonitrileparathyroid scintigraphy using the single-photon emission computed tomography (TC-99 m-MIBI-SPECT) are always indicated prior to parathyroid surgery, allowing the location of parathyroid adenomas. The objective of our study is to evaluate the contribution of TC-99 m-MIBI-SPECT and US in the preoperative topographic diagnosis of PHP. Materials and Methods: this is a descriptive and analytical retrospective study, conducted in our department of Endocrinology, Diabetology and Metabolic Diseases in Hassan II University Hospital of Fez between 2009 and 2018. All patients who received a para-thyroidectomy for PHP were recruited. All patients had received a cervical US and a TC-99 m-MIBI-SPECT. We compared imaging data before surgery with data from intraoperative exploration and anatomopathological findings of surgical samples. Results: Forty-eight patients were collected. US correctly identified parathyroid adenoma in 85.40% of patients with PHP versus 89.50% in TC-99 m-MIBI-SPECT. US correctly predicted surgical outecomes in 97.60% of patients and TC-99 m-MIBI-SPECT in 97.72% of cases. Their combination had better results in sensitivity and positive predictive value. Conclusion: TC-99 m-MIBI-parathyroid scintigraphy SPECT had a higher probability for solitary parathyroid adenoma compared to cervical US. Its use coupled with the TC-99 m-MIBI-parathyroid scintigraphy SPECT allows reliable preoperative tracking.


RésuméIntroduction: Le gold standard du traitement de l'hyperparathyroïdie primaire (HPTP) est la parathyroïdectomie. Afin de localiser l'adénome parathyroïdien avant la chirurgie, Le bilan topographique fait appel à l'échographie cervicale et à la scintigraphie parathyroïdienne au technetium-99 m-méthoxyisobutylisonitrile(TC-99m-MIBI-SPECT).L'objectif de notre étude est d'évaluer la contribution du TC-99 m-MIBI-SPECT et de l'échographie au diagnostic topographique préopératoire de HPTP. Matériels et méthodes: Il s'agit d'une étude rétrospective descriptive et analytique, menée dans notre département d'Endocrinologie, Diabétologie et Maladies métaboliques au CHU Hassan II de Fès entre 2009 et 2018. Tous les patients ayant subi une para-thyroïdectomie pour des HPTP ont été recrutés. Tous les patients avaient bénéficié d'une échographie cervicale et une scintigraphie au TC - 99 m - MIBI - SPECT. Nous avons comparé les données d'imagerie avant la chirurgie avec les données issues de l'exploration peropératoire et les résultats de l'étude anatomopathologique des échantillons chirurgicaux. Résultats: on a inclus quarante-huit patients. l'adénome parathyroïdien était correctement identifié chez 85,40% des patients à l'échographie cervicale contre 89,50% à la scintigraphie au TC - 99 m - MIBI - SPECT. l'échographie cervicale avait prédit correctement les résultats chirurgicaux chez 97,60% des patients contre 97,72% à la scintigraphie au TC - 99 m - MIBI - SPECT. Leur combinaison avait une meilleure sensibilité et une meilleure valeur prédictive positive. Conclusion: la scintigraphie parathyroïde auTC - 99 m - MIBI - SPECT avait une probabilité plus élevée les adénomes parathyroïdiens solitaires par rapport à l'échographie cervicale. Son utilisation couplée à la scintigraphie parathyroïde TC-99 m-MIBI- SPECT permettait une localisation préopératoire plus fiable. Mots-clés: échographie cervicale, valeur prédictive positive, hyperparathyroïdie primaire, scintigraphie parathyroidienne au technétium-99m - méthoxyisobutylisonitrileparathyroïde à l'aide de la tomodensitométrie par émission de photons uniques.


Assuntos
Hiperparatireoidismo Primário , Neoplasias das Paratireoides , Humanos , Hiperparatireoidismo Primário/diagnóstico por imagem , Hiperparatireoidismo Primário/cirurgia , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/patologia , Neoplasias das Paratireoides/cirurgia , Paratireoidectomia/métodos , Estudos Retrospectivos , Sensibilidade e Especificidade , Tecnécio Tc 99m Sestamibi
18.
Cureus ; 14(5): e24752, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35677002

RESUMO

A 30-year-old woman presented with a 15-day history of epigastric pain, nausea, vomiting, asthenia, and weight loss. On admission, hypercalcemia was reported with a negative etiologic workup (including no primary hyperparathyroidism, malignancy, or vitamin D toxicity). Fluid replacement did not improve her hypercalcemia. We performed a blood ionogram and assessed the adrenocortical function, which showed that her serum cortisol was decreased, her adrenocorticotropic hormone (ACTH) was elevated, and anti-21 hydroxylase antibodies were positive. We established the diagnosis of autoimmune primary acute adrenal insufficiency. The patient was treated with hydrocortisone. Shortly after initiating the treatment, her serum calcium levels returned to normal and her symptoms improved. This case report highlights the fact that even though adrenal insufficiency is an uncommon etiology of hypercalcemia, it should not be totally ignored, especially since hypercalcemia can sometimes be indicative of adrenal impairment.

19.
Cureus ; 14(5): e24837, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35698710

RESUMO

Silver-Russell syndrome (SRS) is a rare genetic disorder that combines intrauterine growth retardation, facial dysmorphia, and limb asymmetry. We report the case of a patient diagnosed with SRS on a cluster of clinical arguments, associated with thyroid dysgenesis. We report the case of a 16-year-old patient diagnosed with SRS based on the following clinical findings: hypotrophy at birth, severe stature-ponderal delay (-4DS), hemihypertrophy of the body, macrocephaly, and prominent forehead with severe psychomotor and intellectual delay (IQ < 70). The Netchine-Harbison score is rated at 6/6, hence the performance of a molecular study, the results of which are in progress. Biological and radiological exploration has objectified deep hypothyroidism on a sublingual thyroid for which he was treated with a hormone replacement therapy with L-thyroxine. This association has never been reported in the literature. We report through this case the interest in a morphological assessment in search of other anomalies, which can be associated to improve the management of SRS.

20.
Cureus ; 14(4): e24469, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35637809

RESUMO

Aim Our study aims to assess the prevalence of metabolic syndrome (MS) in patients with diabetes mellitus, identify its determinants, and determine the correlation between MS and degenerative complications. Method A retrospective, descriptive and analytic study was conducted at the Endocrinology, Diabetology, and Nutrition department of the Hassan II University Hospital in Fez, over the period between January 2009 and January 2019. We included in our study all type 1 and type 2 diabetic patients. The presence of metabolic syndrome was defined according to the criteria of the International Diabetes Federation (IDF) and American Heart Association/National Heart, Lung and Blood Institute (AHA / NHLBI) Joint Scientific Statement (2009). The data were entered in Microsoft Excel (Microsoft Corporation. 2018). and analyzed using SPSS software (IBM Corp. Released 2015. IBM SPSS Statistics for Windows, Version 23.0. Armonk, NY: IBM Corp). Result A total of 1034 patients were included in this study; 78.7% were type 2 diabetics (T2D) and 21.3% were type 1 diabetics (T1D). The average age was 52,06 ± 17,33 years in T2D and 27,04 ± 9,66 years in T1D. 65,5% were females. The prevalence of metabolic syndrome was 78.4% for T2D, and 27.3% for T1D. The most common abnormality was high blood pressure in T2D (87.7%), and visceral obesity in T1D (68.3%). The most common triad was the association of increased waist circumference, hypertension, and diabetes (in 25,5% of T2D and 20% of T1D). By comparing the population of diabetics with metabolic syndrome (MS) and those without, we noticed a significant difference (p<0.05) concerning age, gender, all components of MS (high blood pressure, abdominal obesity, hyper triglyceridemia (TG), and hypo high-density lipoprotein cholesterol (HDL-C). Diabetic retinopathy and ischemic heart disease were the only chronic complications correlated with MS (p <0.05). Conclusion High prevalence of metabolic syndrome in diabetic patients. Its screening and the specific treatment of its various components are essential in order to reduce the complications which jeopardize the functional as well as the vital prognosis of these patients.

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