Hyperthyroidism in children is not associated with:
An adolescent with type 1 diabetes returns for a follow-up visit after his annual check-up last week. You note that his serum glucose is elevated, and his glycosylated hemoglobin (hemoglobin A1C) is 16.7%. This finding suggests poor control of his diabetes over at least which of the following time-periods?
Spider naevi are due to action of -
A 38-year-old female presents to the physician with complaints of excessive thirst and urination for the past 4 weeks. Her appetite has been normal and she has not had diarrhea. Blood chemistry showed mildly elevated glucose and glucagon. Physical examination reveals tenderness in the left upper quadrant and an erythematous necrotizing skin eruption on her legs. Radiographic studies show a tumor in the pancreas. Which of the following cells is responsible for this lesion?
Young male presents with delayed puberty with decreased FSH, LH, and testosterone. Which of the following is NOT possible?
A 16-year-old girl presents to her doctor complaining of a swelling in her neck which she has noticed in the last 2 weeks. She has felt more irritable although this is often transient. On examination, a diffuse swelling is palpated with no bruit on auscultation. The most likely diagnosis is:
Adrenal hyperplasia due to 21-hydroxylase deficiency is treated with low dose:
The symptoms of hyperparathyroidism include:
Which is not a feature of SIADH?
Preoperative medication of thyrotoxicosis are all except?
Explanation: ***Mandibular retrognathism*** - **Mandibular retrognathism** (a receded jaw) is not a feature typically associated with hyperthyroidism in children; rather, hyperthyroidism is linked to accelerated growth and development [1]. - Children with hyperthyroidism often exhibit **macrognathia** (enlarged jaw) due to accelerated skeletal maturation, the opposite of retrognathism [1]. *Osteoporosis* - **Accelerated bone turnover** with a net loss of bone mass is common in hyperthyroidism, leading to a higher risk of **osteoporosis** and fractures [1]. - The increased metabolic rate from excessive thyroid hormones directly impacts **bone remodeling**, favoring resorption over formation. *Precocious eruption of teeth* - Hyperthyroidism can cause generalized **accelerated somatic growth** and development, which includes accelerated dental development and **precocious eruption of teeth** [1]. - The elevated thyroid hormone levels speed up the physiological processes involved in tooth formation and emergence. *Periodontal destruction* - The increased metabolic rate and inflammatory state associated with hyperthyroidism can contribute to worsened **periodontal health** and increased susceptibility to **periodontal destruction** [2]. - Hyperthyroidism can exacerbate existing **gingivitis** and lead to more rapid progression of periodontitis due to its effects on tissue metabolism and immune function [2].
Explanation: ***2 months*** - **Hemoglobin A1c** reflects the average blood glucose levels over the preceding **2-3 months**, as it measures glycated hemoglobin within red blood cells. - Red blood cells have a lifespan of approximately 120 days, so this test provides a good indication of long-term glycemic control. [2] *1 month* - While recent glucose levels contribute to A1c, a 1-month period is generally too short to reflect the full averaging effect of the test. - A 1-month period would not fully capture the complete lifespan of red blood cells, which is central to A1c's utility as a long-term marker. *8 hours* - An 8-hour period is far too short to be reflected by hemoglobin A1c, which assesses average glucose over weeks to months. - This timeframe is more relevant for **fasting glucose** or immediate postprandial glucose levels, not long-term control. [1] *1 week* - Similar to a 1-month period, 1 week is insufficient to reflect the long-term glucose control captured by **hemoglobin A1c**. - **Fructosamine** levels are a better indicator for glucose control over a 1-2 week period, as it reflects glycated proteins with a shorter half-life.
Explanation: Estrogen - **Spider naevi** are vascular lesions characterized by a central arteriole surrounded by radiating capillaries, commonly found in conditions with **elevated estrogen levels**. - High estrogen levels lead to **vasodilation** and increased vascularity, causing the formation of these lesions, often seen in **pregnancy** or **cirrhosis** [1], [2]. *Androgen* - Androgens are male sex hormones and their action is generally associated with effects like **acne** and **sebum production**, not spider naevi [2]. - They do not typically cause the **cutaneous vascular changes** seen in spider naevi. *Steroids* - "Steroids" is a broad term, but often refers to corticosteroids, which can cause skin thinning and easy bruising, but not the characteristic **spider naevi**. - While some steroids (like estrogen) do cause them, as a general category, it is not the primary cause. *Progesterone* - Progesterone is a female sex hormone primarily involved in the **menstrual cycle** and maintenance of **pregnancy** [1]. - It does not directly cause the **vasodilation** and vascular changes that lead to the formation of spider naevi.
Explanation: ### Alpha cell - The constellation of **excessive thirst and urination (polyuria/polydipsia)**, **mildly elevated glucose**, **elevated glucagon**, **necrolytic migratory erythema (NME)**, and a **pancreatic tumor** is highly characteristic of a **glucagonoma**. [1] - Glucagonomas originate from **pancreatic alpha cells**, which are responsible for glucagon production. [2] ### Beta cell - **Beta cell tumors** (insulinomas) primarily cause **hypoglycemia** due to excessive insulin secretion, which is antithetical to the patient's symptoms of elevated glucose. [2] - While beta cell tumors can be found in the pancreas, they are not associated with necrolytic migratory erythema or glucagon excess. [1] ### Acinar cell - **Acinar cell carcinomas** are exocrine pancreatic tumors that can cause symptoms related to their size and local invasion (e.g., pain, weight loss, jaundice) but are not typically associated with specific hormonal syndromes such as glucagon excess. - They do not cause the characteristic skin rash or metabolic disturbances seen in this patient. ### Delta cell - **Delta cells** produce **somatostatin**, and tumors originating from these cells (somatostatinomas) can cause symptoms like diabetes, steatorrhea, and gallstones. - However, they do not typically present with elevated glucagon or the characteristic necrolytic migratory erythema.
Explanation: ***Klinefelter's syndrome*** - Klinefelter's syndrome is characterized by **primary hypogonadism**, meaning the testes themselves fail to produce testosterone [3]. This leads to **high FSH and LH** levels due to the lack of negative feedback from testosterone [2],[3]. - The presenting clinical picture of **low FSH, LH, and testosterone** indicates **central hypogonadism**, where the pituitary or hypothalamus is at fault, not the testes directly [2]. *Kallmann syndrome* - Kallmann syndrome is a form of **congenital hypogonadotropic hypogonadism** characterized by a failure of GnRH-producing neurons to migrate to the hypothalamus, leading to **low FSH, LH, and testosterone**. - It is often associated with **anosmia (loss of smell)**, which is a key diagnostic feature. *Constitutional delay* - **Constitutional delay of growth and puberty** is a common cause of delayed puberty, characterized by a temporary suppression of the GnRH pulse generator [1]. - This results in **low FSH, LH, and testosterone** that eventually normalize, and often has a family history of delayed puberty [1]. *DAX-1 gene mutation* - Mutations in the **DAX-1 gene (NR0B1)** are associated with **X-linked adrenal hypoplasia congenita (AHC)**, which often presents with central or **hypogonadotropic hypogonadism**. - This condition leads to **low FSH, LH, and testosterone** due to hypothalamic-pituitary dysfunction in addition to adrenal insufficiency.
Explanation: Simple goitre - A simple goitre is a general term for an enlarged thyroid gland not caused by inflammation or neoplasm, which is consistent with the diffuse swelling described [1]. - The patient's age and the transient irritability combined with a diffuse goitre without bruits or overt signs of severe hyperthyroidism are characteristic of this diagnosis, often related to iodine deficiency or pubertal hormonal changes [1]. Thyroid cyst - A thyroid cyst typically presents as a well-defined, usually solitary, palpable nodule rather than a diffuse swelling. - Cysts are often asymptomatic unless they become large enough to cause compressive symptoms or are infected, and are less likely to cause irritability. Hyperthyroidism - While irritability can be a symptom of hyperthyroidism, the absence of a bruit over the thyroid (common in Graves' disease due to increased blood flow) and the lack of other clear hyperthyroid symptoms (e.g., weight loss, heat intolerance, tremor, tachycardia) make this less likely. - "Diffuse swelling" could describe Graves' disease, but symptoms are not strong enough to jump to this conclusion, especially without a bruit. Riedel's thyroiditis - Riedel's thyroiditis is a rare, invasive fibrotic process that makes the thyroid gland stony hard and fixed to surrounding structures. - It would typically present with a hard, fixed mass rather than a simple diffuse swelling, and would be extremely rare in a 16-year-old.
Explanation: ***Cortisone*** - **Cortisone** (a glucocorticoid) is used to suppress excessive **ACTH** (adrenocorticotropic hormone) secretion from the pituitary, which drives the adrenal gland to overproduce precursors due to the enzyme deficiency [1]. - This treatment aims to reduce the synthesis of **androgens** and other steroid intermediates, thereby preventing virilization and salt-wasting crises [1]. *Androgen* - Administering **androgen** would worsen the symptoms of **adrenal hyperplasia**, such as virilization in females and precocious puberty in males, as the condition already involves excess androgen production [1]. - The goal of treatment is to *reduce* androgen levels, not increase them. *Estrogen* - **Estrogen** supplementation is not a primary treatment for 21-hydroxylase deficiency. While it might be used in specific cases for feminization in females with severe virilization, it does not address the underlying hormonal imbalance or the compensatory ACTH production. - Its use would not suppress the adrenal overstimulation that leads to increased androgen production. *Anti-androgen* - **Anti-androgens** can block the effects of excess androgens at target tissues and are sometimes used as adjunctive therapy, particularly for cosmetic issues like hirsutism in females. - However, anti-androgens do not address the root cause of adrenal overproduction or suppress the elevated **ACTH** levels; they merely mitigate the peripheral effects of the excess androgens.
Explanation: ***All of the options*** - **Hyperparathyroidism** leads to elevated **calcium levels** (hypercalcemia), which can manifest in a wide range of symptoms affecting multiple organ systems [1]. - The classic mnemonic for hypercalcemia symptoms is "**stones, bones, groans, and psychiatric overtones**," encompassing renal, skeletal, gastrointestinal, and neurological issues [1][2]. *Polydipsia & polyuria* - **Hypercalcemia** impairs the kidneys' ability to concentrate urine, leading to **nephrogenic diabetes insipidus** and subsequent **polyuria** (excessive urination) [1]. - The increased fluid loss from polyuria then triggers **polydipsia** (excessive thirst) to maintain hydration [1]. *Anorexia & weight loss* - Elevated calcium levels can cause **gastrointestinal symptoms** such as **anorexia** (loss of appetite), nausea, and vomiting [1]. - Chronic anorexia and associated GI disturbances can contribute to **weight loss** in patients with hyperparathyroidism. *Constipation & muscle weakness* - **Hypercalcemia** reduces the smooth muscle activity of the gastrointestinal tract, leading to decreased peristalsis and **constipation** [1]. - High calcium levels can also interfere with nerve and muscle function, resulting in generalized **muscle weakness** and fatigue [1].
Explanation: ***Low urine sodium*** - **SIADH** is characterized by excessive **ADH release**, leading to **water retention** and **dilutional hyponatremia** [1]. - In response to decreased effective circulating volume and concentrated urine, the kidneys excrete a relatively high amount of sodium, typically **urine sodium > 40 mEq/L**. *Urine Osmolality > 100 mosm/ kg* - In SIADH, the excess **ADH** causes the kidneys to retain water, leading to the production of **concentrated urine** despite plasma hypo-osmolality [1]. - A **urine osmolality > 100 mOsm/kg H2O** is a diagnostic criterion, reflecting this inappropriate water retention. *Treatment is fluid restriction* - The primary treatment for SIADH is **fluid restriction**, which helps to reduce water intake and correct the **dilutional hyponatremia**. - This intervention aims to achieve a negative water balance and gradually increase serum sodium concentration. *Euvolemia* - Despite significant water retention and hyponatremia, patients with SIADH are typically **euvolemic** (normal fluid volume status) [1]. - The excess water is primarily distributed intracellularly and interstitially, without causing overt edema or dehydration.
Explanation: Levothyroxine - Levothyroxine is a synthetic thyroid hormone used to treat hypothyroidism, meaning it increases thyroid hormone levels, which would worsen thyrotoxicosis [1]. - Its administration would be contraindicated in a patient with thyrotoxicosis, as the goal is to reduce thyroid hormone levels preoperatively. Carbimazole - Carbimazole is a thionamide drug that inhibits the synthesis of thyroid hormones, making it a critical medication for treating hyperthyroidism and preparing patients for surgery [1]. - It reduces the amount of thyroid hormone produced by the thyroid gland, thus mitigating the risks associated with thyrotoxicosis during surgery. PTU - Propylthiouracil (PTU), like carbimazole, is a thionamide that blocks thyroid hormone synthesis and also inhibits the conversion of T4 to T3 [1]. - It is used in the preoperative management of thyrotoxicosis to achieve a euthyroid state and prevent a thyroid storm. Propranolol - Propranolol is a beta-blocker used to manage the symptoms of thyrotoxicosis, particularly the cardiovascular effects such as tachycardia, palpitations, and tremors [1]. - While it does not affect thyroid hormone levels directly, it helps control symptoms and stabilize the patient preoperatively, making them a safer candidate for surgery [1].
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