Endocrine factors associated with infertility in women: an updated review.

INTRODUCTION: Infertility is defined as the inability to conceive after unprotected sexual intercourse for at least 12 consecutive months. Our objective is to present an updated narrative review on the endocrine causes of infertility in women. AREAS COVERED: A comprehensive review was conducted using Scielo, Scopus, and EMBASE databases, comprising 245 articles. The pathophysiology of infertility in women was described, including endocrinopathies such as hypothalamic amenorrhea, hyperprolactinemia, polycystic ovary syndrome, primary ovarian insufficiency, obesity, thyroid dysfunction, and adrenal disorders. The diagnostic approach was outlined, emphasizing the necessity of hormonal studies and ovarian response assessments. Additionally, the treatment plan was presented, commencing with non-pharmacological interventions, encompassing the adoption of a Mediterranean diet, vitamin supplementation, moderate exercise, and maintaining a healthy weight. Subsequently, pharmacological treatment was discussed, focusing on the management of associated endocrine disorders and ovulatory dysfunction. EXPERT OPINION: This comprehensive review highlights the impact of endocrine disorders on fertility in women, providing diagnostic and therapeutic algorithms. Despite remaining knowledge gaps that hinder more effective treatments, ongoing research and advancements show promise for improved fertility success rates within the next five years. Enhanced comprehension of the pathophysiology behind endocrine causes and the progress in genetic research will facilitate the delivery of personalized treatments, thus enhancing fertility rates.

Refractory Hypothyroidism: Unraveling the Complexities of Diagnosis and Management.

INTRODUCTION: Refractory hypothyroidism (RH) represents a challenge in the diagnosis and treatment within the field of thyroidology. It is defined as the inability to achieve disease control despite using levothyroxine (LT4) doses of 1.9 µg/kg/d or higher. METHODS: A comprehensive review, encompassing 103 articles, was conducted using the Scielo, Scopus, and EMBASE databases, providing an approach to evaluation and diagnosis of this condition. RESULTS: LT4 disintegrates and dissolves within an acidic gastric environment before being absorbed in the jejunum and ileum. It then extensively binds to serum transporter proteins and undergoes deiodination to yield tri-iodothyronine, the biologically active hormone. There are various nonpathological causes of RH, such as noncompliance with treatment, changes in the brand of LT4, food and drug interferences, as well as pregnancy. Pathological causes include lactose intolerance, Helicobacter pylori infection, giardiasis, among others. The diagnosis of RH involves conducting a thorough medical history and requesting relevant laboratory tests to rule out causes of treatment resistance. The LT4 absorption test allows for the identification of cases of malabsorption. The treatment of RH involves identifying and addressing the underlying causes of noncompliance or malabsorption. In cases of pseudomalabsorption, supervised and weekly administration of LT4 may be considered. DISCUSSION: Early recognition of RH and correction of its underlying cause are of utmost importance, as this avoids the use of excessive doses of LT4 and prevents cardiovascular and bone complications associated with this condition.

Coexistence of Thyrolipomatosis and Tongue Squamous Cell Carcinoma: A Case Report.

Thyrolipomatosis, a diffuse non-neoplastic infiltration of fatty tissue in the thyroid gland, is an extremely rare condition with only about 30 cases reported worldwide. A few of these cases report the concurrency of thyrolipomatosis and malignant neoplasms in the thyroid or colon, but never with tongue cancer. A 44-year-old female patient with an infiltrative tongue mass suggestive of carcinoma presented for an outpatient consultation. Cervical imaging revealed multiple lymphadenopathies and a multinodular goitre with diffuse fatty infiltration, suggestive of thyrolipomatosis. Surgical intervention included partial resection of the tongue and thyroid (left hemiglossectomy and right hemithyroidectomy, respectively) and lymphadenectomy. The thyroid specimen showed diffuse fat metaplasia of the stromal thyroid tissue, confirming incidental thyrolipomatosis. During post-operative follow-up, the patient presented with recurrence of squamous cell carcinoma as indicated by new right-sided thyroid nodules, left-sided lymphadenopathies with confirmatory biopsy, and a growing neck mass that became infected. The patient developed septic shock and later died. Thyrolipomatosis causes thyroid swelling and can be clinically detected as goitres or as an incidental finding. Diagnosis is suggested by cervical imaging (ultrasonography, computed tomography or magnetic resonance), but confirmation is histological after thyroidectomy. Although thyrolipomatosis is benign, it could develop concurrently with neoplastic diseases, especially on embryologically related tissues (e.g. thyroid and tongue). This case report is the first in the literature describing the coexistence between thyrolipomatosis and tongue cancer in an adult Peruvian patient.

Diabetic neuropathy: Past, present, and future.

Background: A sedentary lifestyle and an unhealthy diet have considerably increased the incidence of diabetes mellitus worldwide in recent decades, which has generated a high rate of associated chronic complications. Methods: A narrative review was performed in MEDLINE, EMBASES and SciELO databases, including 162 articles. Results: Diabetic neuropathy (DN) is the most common of these complications, mainly producing two types of involvement: sensorimotor neuropathy, whose most common form is symmetric distal polyneuropathy, and autonomic neuropathies, affecting the cardiovascular, gastrointestinal, and urogenital system. Although hyperglycemia is the main metabolic alteration involved in its genesis, the presents of obesity, dyslipidemia, arterial hypertension, and smoking, play an additional role in its appearance. In the pathophysiology, three main phenomena stand out: oxidative stress, the formation of advanced glycosylation end-products, and microvasculature damage. Diagnosis is clinical, and it is recommended to use a 10 g monofilament and a 128 Hz tuning fork as screening tools. Glycemic control and non-pharmacological interventions constitute the mainstay of DN treatment, although there are currently investigations in antioxidant therapies, in addition to pain management. Conclusions: Diabetes mellitus causes damage to peripheral nerves, being the most common form of this, distal symmetric polyneuropathy. Control of glycemia and comorbidities contribute to prevent, postpone, and reduce its severity. Pharmacological interventions are intended to relieve pain.

Küpers clinical prediction score in a case series of primary aldosteronism

Background: Primary aldosteronism is a disorder due to excessive aldosterone production in the presence of low renin levels. It is an underdiagnosed pathology despite its simple screening. Establishing the unilateral or bilateral location represents the greatest diagnostic challenge and is crucial to define the therapeutic approach. Adrenal venous catheterization (AVC) is the best test to establish the location, but it is invasive and expensive. New predictive markers of laterality are being developed. Case series presentation: We present a case series of 8 patients diagnosed with primary aldosteronism due to arterial hypertension with hypokalaemia, elevated aldosterone-renin ratio and compatible computed tomography. 4 patients underwent adrenal venous catheterization. Conclusion: In patients who underwent catheterization as well as in those who did not, the Küpers score adequately predicted lateralization in 75% of cases and it could be a useful tool to discriminate unilateral from bilateral aldosteronism.

Introducción: El hiperaldosteronismo primario es un desorden debido a una producción excesiva de aldosterona en presencia de niveles bajos de renina. Es una patología infradiagnosticada a pesar de su simple tamizaje. Definir la localización unilateral o bilateral representa el más importante desafío diagnóstico y es crucial para el abordaje terapéutico. El cateterismo venoso adrenal (CVA) es la mejor prueba para establecer la localización, pero es invasivo y costoso. Nuevos marcadores predictivos de unilateralidad se encuentran en desarrollo. Presentación de serie de casos: Presentamos una serie de casos de 8 pacientes diagnosticados con hiperaldosteronismo primario debido a hipertensión arterial con hipocalemia, radio aldosterona-renina elevado y tomografía compatible. 4 pacientes fueron sometidos a cateterismo venoso adrenal. Conclusión: Tanto en los pacientes que fueron sometidos a cateterismo venoso adrenal como en los que no, el score de Küpers predijo adecuadamente la lateralidad en 75% de los casos y puede ser una herramienta útil para diferenciar el hiperaldosteronismo unilateral del bilateral.

[Bilateral adrenal incidentaloma in a patient with acute appendicitis]. / Incidentaloma adrenal bilateral en un paciente con apendicitis aguda.

BACKGROUND: Adrenal incidentalomas are tumors that are usually detected in imaging studies indicated without suspicion of adrenal disease. Pheochromocytoma is a neuroendocrine tumor that can occur sporadically or associated with genetic syndromes, having been described in 0.1-5% of patients with type 1 neurofibromatosis, which is a progressive multisystemic disease of autosomal dominant inheritance that affects 1 / 2600-3000 individuals . CLINICAL CASE: We present the case of a 50-year-old patient who was admitted to the Emergency Department for acute appendicitis and whose CT scan showed the presence of bilateral adrenal masses is reported. After the surgical intervention, he was hospitalized for study. The patient denied headache, sweating, hypertension, palpitations, and weight loss; Physical examination revealed the presence of multiple lentigines, café-au-lait spots > 15 mm, fixed and pedunculated nodular lesions, compatible with focal neurofibromas, without signs suggestive of hypo or hypercortisolism. In the analysis, total metanephrines and vanillyl-mandelic acid were identified in urine, they were found in very high values, being subjected to laparoscopic adrenalectomy in 2 stages, after adequate preparation that included alpha and beta adrenergic blockade. CONCLUSIONS: In patients with adrenal masses, it is necessary to recognize the importance of a comprehensive clinical evaluation to guide an adequate diagnostic study, as well as the performance of an optimal preoperative study that includes hormonal tests to rule out functionality.

INTRODUCCIÓN: los incidentalomas adrenales son tumores que suelen ser detectados en estudios de imágenes indicados sin sospecha de enfermedad adrenal. El feocromocitoma es un tumor neuroendocrino que puede presentarse esporádicamente o asociado a síndromes genéticos, habiendo sido descrito en 0.1-5% de pacientes con neurofibromatosis tipo 1, que es una enfermedad progresiva multisistémica de herencia autosómica dominante que afecta a 1/2600-3000 individuos. CASO CLÍNICO: se reporta el caso de un paciente de 50 años quien ingresó al departamento de Emergencia por apendicitis aguda y cuya tomografía mostró la presencia de masas adrenales bilaterales. Luego de la intervención quirúrgica fue hospitalizado para estudio. El paciente negó cefalea, diaforesis, hipertensión arterial, palpitaciones y pérdida de peso; en el examen físico se evidenció presencia de múltiples lentígines, manchas café con leche > 15 mm, lesiones nodulares fijas y pedunculadas, compatibles con neurofibromas focales, sin signos sugestivos de hipo o hipercortisolismo. En la analítica se identificaron metanefrinas totales y ácido vanilil-mandélico en orina encontrándose en valores muy elevados, siendo sometido a adrenalectomía laparoscópica en 2 tiempos, luego de una adecuada preparación que incluyó bloqueo alfa y beta adrenérgicos. CONCLUSIONES: en los pacientes con masas adrenales es necesario reconocer la importancia de una evaluación clínica integral para guiar un adecuado estudio diagnóstico, así como la realización de un óptimo estudio preoperatorio que incluye las pruebas hormonales para descartar funcionalidad.

Hyperinsulinemic hypoglycemia caused by nesidioblastosis associated with non-surgical weight loss.

INTRODUCCIÓN: La nesidioblastosis es una enfermedad poco frecuente en los adultos caracterizada por hiperplasia de los islotes pancreáticos, produciendo hipoglucemia por incremento de la producción de insulina. Su patogenia es poco conocida. Clínicamente se ha descrito un cuadro de hipoglucemia con valores elevados de insulina y de péptido C sin ninguna lesión tumoral pancreática detectable. El diagnóstico final es histopatológico. CASO CLÍNICO: Mujer de 36 años que cursa con episodios recurrentes de hipoglucemia sintomática de predominio posprandial, asociada a elevación de los valores sanguíneos de insulina y péptido C. Los estudios de imágenes (tomografía computarizada trifásica, resonancia magnética, ecoendoscopia y octreoscan) no mostraron lesiones compatibles con insulinoma. Se le realizó estimulación intraarterial con calcio, que mostró un incremento de la insulinemia en más de un segmento pancreático posestimulación. La paciente fue sometida a pancreatectomía corporocaudal, cuya evaluación histopatológica informó de nesidioblastosis. CONCLUSIONES: La nesidioblastosis representa menos del 5% de los casos de hipoglucemia hiperinsulinémica en los adultos, por lo que debe considerarse como diagnóstico -diferencial en estos pacientes; su diagnóstico es difícil y requiere confirmación histopatológica. BACKGROUND: Nesidioblastosis is a rare disease in adults caused by pancreatic islet hyperplasia, producing hypoglycemia due to an increase in insulin production. The pathogenesis is poorly understood, however a clinical picture characterized by hypoglycemia with high levels of insulin and C-peptide without any detectable pancreatic lesion has been described, its final diagnosis is histological. CASE REPORT: We report a case of a 36-year-old female patient who presents with recurrent episodes of hypoglycemia symptomatic predominantly postprandial, associated with insulin and C-peptide elevation. Images were made (triphasic computed tomography, magnetic resonance imaging, echoendoscopy and octreoscan), being negative for insulinoma. Subsequent tests included calcium stimulation of the pancreas, revealing marked insulin release in more than one pancreatic segment. The patient was subjected to distal pancreatectomy confirming in the histological study the diagnosis of nesidioblastosis. CONCLUSIONS: Nesidioblastosis accounts for less than 5% of the cases of cases of hyperinsulinemic hypoglycemia in adult patients, should be considered as a differential diagnosis in patients with persistent hypoglycemia, the diagnosis is difficult and usually requires histological confirmation.

Adipsic diabetes insipidus patient in postoperative pituitary macroadenoma. / Diabetes insípida adípsica en paciente posoperado de macroadenoma hipofisiario.

BACKGROUND: Adipsic diabetes insipidus is a rare condition secondary to injury to osmoreceptors in the anterior hypothalamic area. Only two cases have been published secondary to pituitary tumor surgery. CASE REPORT: A 43-year-old man, postoperative of a non-functioning pituitary macroadenoma invading the third ventricle and compressing the hypothalamus. Reoperated for headache and rhinorrhachia, developing diabetes insipidus in the postoperative period was discharged with 20 µg/day nasal desmopressin. He came again due to sensorial disorder and hypernatremia, managing to control with intravenous hydration and desmopressin. It presents with recurrence of hypernatremia every time intravenous hydration is suspended and taken orally. With high sodium levels, there is an absence of thirst. A diagnosis of adipsic diabetes insipidus is made, indicating supervised administration of water orally with favorable evolution. CONCLUSIONS: Adipsic diabetes insipidus is a rare variant of central diabetes insipidus caused by damage to osmoreceptors in the hypothalamus. It manifests with absence of perception of thirst, hypernatremia and polyuria. Its management is complex and requires strict control of the water balance and adherence to treatment.

INTRODUCCIÓN: La diabetes insípida adípsica es una condición rara, secundaria a una lesión de los osmorreceptores del área hipotalámica anterior. Solo se han publicado dos casos secundarios a cirugía de tumor hipofisiario. CASO CLÍNICO: Varón de 43 años, posoperado de macroadenoma hipofisiario no funcionante que invadía el tercer ventrículo y comprimía el hipotálamo. Reoperado por cefalea y rinorraquia, desarrolla en el posoperatorio diabetes insípida; es dado de alta con desmopresina nasal (20 µg/día). Acude de nuevo por trastorno del sensorio e hipernatremia, que se logra controlar con hidratación intravenosa y desmopresina. Cursa con recurrencia de la hipernatremia cada vez que se suspende la hidratación intravenosa e inicia la vía oral. Con valores de sodio elevados se objetiva la ausencia de sed. Se hace diagnóstico de diabetes insípida adípsica y se indica la administración supervisada de agua por vía oral, con evolución favorable. CONCLUSIONES: La diabetes insípida adípsica es una variante rara de diabetes insípida central causada por un daño en los osmorreceptores del hipotálamo. Se manifiesta con ausencia de percepción de sed, hipernatremia y poliuria. Su manejo es complejo y requiere un control estricto del balance hídrico y adherencia al tratamiento.