Endocrinology

Acromegaly
Acromegaly is a chronic, slowly developing disease with progressive disfigurement and disability. An early diagnosis is difficult as most signs and symptoms are due to long-standing overproduction of growth hormone &/or insulin-like growth factor (IGF-I) causing metabolic, endocrine and morphological changes.
Surgical intervention is the first-line of treatment for almost all patients with acromegaly unless there are contraindications or the patient refuses to undergo the procedure.
Adrenal Insufficiency
Adrenal insufficiency (AI) is the insufficient secretions of corticosteroids that may cause partial or complete destruction of the adrenal glands.
Primary AI or Addison’s disease is due to the inability of the adrenal gland to produce steroid hormones even when the stimulus by the pituitary gland via corticotrophin is adequate or increased.
Secondary AI is due to disorders of the pituitary gland that causes production of low levels of adrenocorticotropic hormone that will result to reduced cortisol levels.
Tertiary AI is the inability of the hypothalamus to produce sufficient amount of corticotropin releasing hormone.
Signs and symptoms are usually nonspecific with insidious onset.
Common signs and symptoms are fatigue, weakness, salt craving, orthostatic hypotension, nausea, vomiting, abdominal pain, diarrhea, anorexia and weight loss.
Cushing's Syndrome
Cushing’s syndrome is a condition which is due to prolonged exposure of the body tissue to excess cortisol (glucocorticoid hormone).
Laboratory tests and radiological findings confirm diagnosis and determine the actual cause of Cushing's syndrome.
Endogenous adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome has adrenal hypersecretion due to adrenal adenoma, adrenal carcinoma, micronodular hyperplasia, and macronodular hyperplasia.
Exogenous ACTH-independent Cushing's syndrome has adrenal hypersecretion due to iatrogenic causes (eg drug-induced, corticosteroid use).
Diabetes Insipidus
Diabetes insipidus is a polyuric disease characterized by excretion of a large volume of hypotonic urine and hypernatremia. It is due to the absence of antidiuretic hormone.
Central (hypothalamic or neurohypophyseal) diabetes insipidus is the inability to secrete & produce vasopressin in the neurohypophyseal system. It is due to damage to the pituitary gland & hypothalamus, may be due to diseases, head injuries, neurosurgery, infection or genetic or autoimmune disorders.
In nephrogenic diabetes insipidus, there is inappropriate renal response to vasopressin. Kidney function may be impaired by drugs & by chronic disorders like polycystic kidney disease, sickle cell disease, kidney failure, partial ureteral block, hypokalemia, hypocalcemia, low protein diet & genetic disorders.
Primary polydipsia have abnormal increase in fluid intake.
Diabetes Mellitus
Diabetes mellitus (DM) is a heterogenous metabolic disorder characterized by the presence of hyperglycemia with carbohydrate, protein and fat metabolism disturbance which results from defects in either insulin secretion or action.
Patients with DM usually presents with polyuria, polydipsia and unexplained weight loss.
Type 1 DM is caused by beta cell destruction which leads to complete insulin deficiency. It may be immune-mediated or idiopathic.
Patients may present with ketoacidosis or acute onset of hyperglycemia while other patients may resemble type 2 DM or symptoms of other autoimmune disorders.
Type 2 DM is the most common form of diabetes. It is secondary to defect in insulin secretion concomitant with insulin resistance.
Majority of patients are asymptomatic. Ketoacidosis is uncommon and usually secondary to stress (eg infection).
Diabetic Ketoacidosis & Hyperosmolar Hyperglycemic State
Diabetic ketoacidosis is characterized by having blood glucose >13.9 mmol/L, arterial pH <7.3 in adults or venous pH <7.3 in pediatrics, bicarbonate <15 mEg/L, moderate ketonuria or ketonemia and anion gap >14.
Hyperosmolar Hyperglycemic state in adults is described as having blood glucose >33.3 mmol/L, arterial pH >7.3, bicarbonate >15 mEq/L, mild ketonuria or ketonemia, effective serum osmolality >320 mOsm/kg and variable anion gap.
While hyperosmolar Hyperglycemic state in pediatric patients have blood glucose >33.3 mmol/L, venous pH >7.3, bicarbonate >15 mEq/L and altered mental status or severe dehydration.
Dyslipidemia
Dyslipidemia is having an abnormal amount of lipids or fats in the blood.
Lipid profile is obtained from an individual with diabetes mellitus, coronary heart disease, cerebrovascular disease, peripheral arterial disease or other coronary heart disease risk factors or from an individual with family history or clinical evidence of familial hypercholesterolemia.
Plasma lipids are total cholesterol, high-density lipoprotein cholesterol, trigylcerides, and low-density lipoprotein cholesterol.
Evaluation of lipid profile must be performed in parallel with the risk assessment of coronary heart disease.
Erectile Dysfunction

Erectile dysfunction is the inability to attain and maintain an erection enough to have satisfactory sexual performance for ≥3 months.

It is when the patient complains of partial erection that could not attain vaginal penetration.

Complete loss of penile rigidity is uncommon.

Initial penile erections can penetrate but early detumescence occurs without ejaculation.

Gestational Diabetes Mellitus
Gestational diabetes mellitus (DM) is any degree of glucose intolerance with onset or first recognition during pregnancy.
However, overt DM is the diagnosis in women presenting with risk factors for type 2 DM during the first prenatal visit.
Identification and diagnosis of hyperglycemic disorders in pregnancy is recommended to all women not known to have DM prior to pregnancy.
All women that will be identified to have overt DM during pregnancy or have gestational DM should have postpartum glucose testing.
Goiter Nontoxic (Simple): Diffuse & Multinodular
Nontoxic goiter is thyroid enlargement unrelated to hypothyroidism, hyperthyroidism, inflammation or neoplasia.
Etiology is usually unknown. Some known causes include iodine deficiency, iodine excess, goitrogen ingestion, autoimmune disorders, thyroid hormone production defects and certain medications.
It is usually asymptomatic.
Symptomatic patient may present with painless neck swelling, cosmetic complaints, shortness of breath, sudden increase in goiter size with pain due to hemorrhage, larger goiter causing obstructive signs eg dysphagia, choking sensation and Pemberton's sign.
Graves' Disease
Graves' disease is an autoimmune disorder that results into overproduction of thyroid hormones.
Thyrotoxicosis signs and symptoms include hyperactivity, irritability, insomnia, dysphoria, sweating, heat intolerance, palpitations, weakness, fatigue, weight loss despite increased appetite, diarrhea, steatorrhea polyuria, decreased libido, tachycardia, tremor, goiter, alopecia, gynecomastia, eyelid lag or retraction and rarely periodic paralysis.
Clinical features in thyrotoxic patient that suggests Graves's disease are ophthalmopathy, thyroid dermopathy, thyroid acropachy, diffuse goiter, antibodies to thyroid peroxidase or thyroglobulin and thyroid radionuclide scan demonstrating a diffuse goiter.
Growth Hormone Deficiency
Growth hormone deficiency in adults reflects an absence of two hormones, growth hormone and insulin-like growth factor-1 (IGF-1), affecting the process of glucose-insulin metabolism, lipolysis and bone remodelling.
History may show pituitary adenoma, surgery &/or radiation treatment of pituitary adenomas or cranial radiation for other disorders, deficiency of other pituitary hormones that may occur concurrently with growth hormone deficiency, and previous childhood growth hormone deficiency.
Physical exam reveals reduced lean body mass with increased weight, body fat predominantly in the abdominal region, thin & dry skin, cool peripheries, poor venous access and blunt affect.
Hyperaldosteronism
Hyperaldosteronism is a group of disorders in which aldosterone production is inappropriately high, relatively autonomous & non-suppressible by sodium loading.
Signs & symptoms are nonspecific.
Symptoms are caused by hypertension (eg headache), hypokalemia (eg polyuria, nocturia, muscle cramps & weakness, tetany, paralysis, etc) & metabolic alkalosis.
Hypercalcemia
Hypercalcemia is having serum calcium level of >10.5 mg/dL (>2.5 mmol/L).
Mild hypercalcemia is usually asymptomatic. While, more severe hypercalcemia has a constellation of clinical manifestations commonly described as "bones, abdominal moans, stones & groans."
Etiologies may be parathyroid-dependent or parathyroid independent.
Surgery is the treatment of choice for hypercalcemic patients with classic symptoms or complications of primary hyperparathyroidism.
Hyperprolactinemia
Hyperprolactinemia is the presence of elevated prolactin levels that occurs in about one-thirds of patients w/ chronic kidney disease & resolves after successful transplantation.
It may cause visual field defects or headache in both men and women.
In women, signs and symptoms include menstrual irregularity, galactorrhea, infertility, vaginal dryness, dyspareunia, loss of libido and reduction in vertebral bone density (in sustained, pronounced hyperprolactinemia).
While in men, signs and symptoms include diminished libido, hypogonadism, gonadotrophin suppression, osteopenia, decreased muscle mass, and decreased facial hair that may occur in prolonged hyperprolactinemia.
Hypocalcemia
Hypocalcemia is the occurs when serum calcium concentration is below the lower limit of normal range.
Acute hypocalcemia has neuromuscular tetany as hallmark symptom. Patients have rapid decrease in serum calcium and present with symptomatic hypocalcemia.
It is an emergency condition and requires immediate attention. Ca (IV) should be administered until signs and symptoms abate or until serum Ca levels rise.
Chronic hypocalcemia has asymptomatic mild hypocalcemia. Treatment is necessary to avoid long term complications. Oral Ca may be administered.
Hypogonadism in Males - Late-Onset
Late onset hypogonadism is defined as clinical and biochemical syndrome characterized by older age, set of typical symptoms, and deficiency in serum testosterone levels.
The quality of life may be decreased and multiple organ systems may be adversely affected.
Prior to the start of testosterone substitution, there should be confirmation of low serum testosterone and a confirmation of need based on clinical findings.
Only if the potential benefit exceeds the risk, then replacement testosterone should be started.
Hypomagnesemia & Hypermagnesemia
Hypomagnesemia is having a serum magnesium concentration of <1.3 mEq/L.
Patients with mild hypomagnesemia is asymptomatic and have usually a serum Mg >0.5 mmol/L. While those with moderate-severe hypomagnesemia, the patient is symptomatic and have serum Mg <5 mmol/L.
Hypermagnesemia signs and symptoms usually do not appear unless Mg >2 mmol/L (5 mg/dL). It rarely occurs and usually iatrogenic.
Hypophosphatemia & Hyperphosphatemia
Hypophosphatemia is recognized most often in critically-ill patients, decompensated diabetics, alcoholics or other malnourished persons, and acute infectious or pulmonary disorders.
A decrease in serum phosphate should be distinguished from a decrease in total body storage of phosphate.
Hypophosphatemia may be transient and reflect intracellular shift with minimal clinical consequences.
Most symptoms of acute hyperphosphatemia are due to secondary hypocalcemia.
The significant level of hyperphosphatemia in adults is 5 mg/dL.
Hypothyroidism
Hypothyroidism is a common endocrine disorder where in the thyroid does not make enough thyroid hormone.
Subclinical/mild hypothyroidism refers to the state of slightly increased serum TSH with normal serum FT4 in patients who are usually asymptomatic.
Most common cause of primary hypothyroidism is autoimmune thyroiditis or Hashimoto's disease.
Levothyroxine is the first-line agent for treatment of hypothyroidism.
Infertility

Infertility is when a couple of reproductive age is unable to conceive after a year or more of regular unprotected intercourse.

It can be primary if no pregnancy has ever occurred or secondary if pregnancy has occurred irrespective of the outcome.

Ovulation induction is part of patient's management which aims to achieve development of a single follicle & subsequent ovulation in woman w/ anovulation.

Menopause & Hormone Therapy
Spontaneous/Natural menopause is the final menstrual period confirmed after 12 consecutive months of amenorrhea with no pathological cause.
Induced menopause is the permanent cessation of menstruation after bilateral oophorectomy (ie surgical menopause) or iatrogenic ablation of ovarian function (eg pelvic radiation therapy, chemotherapy).
Perimenopause/Menopause transition/Climacteric is the duration when menstrual cycle & endocrine changes occur a few years before and 12 months after the final menstrual period resulting from natural menopause.
Premature menopause is menopause before 40 years of age whether natural or induced while early menopause is spontaneous or induced menopause that occurs before the average age of natural menopause at 51 years or under 45 years of age.
Neuroendocrine Tumors
Neuroendocrine tumors are rare, small, slow-growing epithelial neoplasms with predominant neuroendocrine differentiation found in most organs of the body.
They arise from cells throughout the diffuse endocrine system.
Carcinoid tumors and pancreatic neuroendocrine tumors are the most common.
Carcinoid tumors arise from the lungs & bronchi, stomach, small intestine, appendix, rectum or thymus.
Majority of the neuroendocrine tumors are sporadic but some tumors are caused by inherited genetic syndromes such as multiple endocrine neoplasia, Von-Hippel Lindau disease, tuberous sclerosis complex and neurofibromatosis.
They have the ability to store and secrete various peptides and neuroamines.
Obesity
Obesity is having an excessive amount of body fat in relation to lean body mass that may impair health.
The primary cause is an energy imbalance between calories consumed and expended.
Treatment goals include to lose 5-10% of body wt or 0.5-1 kg (1-2 lb)/week for 6 months and regain of <3 kg in 2 years and sustained reduction of waist circumference of at least 4 cm.
Strategies are aiming for realistic goals and a multidisciplinary approach that is a combination of dietary change, physical activity and behavioral modification.
Osteoporosis
Osteoporosis is the progressive, systemic skeletal disease characterized by decreased bone mass and micro-architectural deterioration of bone tissue leading to bone fragility and increased susceptibility to fractures.
The more risk factors (eg history, of fracture, advanced age, comorbidities, impaired vision) that are present, the greater the risk of fracture.
Paget's Bone Disease
Paget's bone disease, also known as osteitis deformans, is characterized by a significant increase in bone resorption and turnover in localized parts of the skeleton causing enlargement and thickening of the bone that is disordered and architecturally unstable.
The prevalence increases with age, with men and women affected equally.
Genetic factors and/or viral infection may play a role in the etiology.
May affect one bone (monostotic) or several bones (polyostotic).
By decreasing frequency, involved bones may include pelvic bone and sacrum, spine, skull and femur, tibia, humeri and clavicles.
Pheochromocytoma
Pheochromocytoma is a rare adrenal gland tumor that may precipitate life-threatening hypertension.
It can occur at any age but usually occurs during young to mid-adult life.
Majority of patients presents with ≥1 of the following hypertension resistant to standard antihypertensive treatment, hypertensive crisis with malignant hypertension, hypertensive encephalopathy, aortic dissection, or myocardial infarction and paroxysmal symptoms which suggest seizure disorder, anxiety attacks or hyperventilation.
Polycystic Ovarian Syndrome
Polycystic ovarian syndrome (PCOS) is the accumulation of underdeveloped follicles in the ovaries due to anovulation. It is is characterized by menstrual abnormalities and clinical or biochemical features of hyperandrogenism.
It results mainly from abnormal steroidogenesis that may be caused by insulin resistance leading to hyperinsulinemia.
There is increased sensitivity to androgens and the majority of women have elevated androgen levels.
Premature Ejaculation
Premature ejaculation is a male sexual dysfunction characterized by short, easily stimulated ejaculation that occurs always or nearly always before or within one minute of vaginal penetration.
It is involuntarily controlled and causes negative personal consequences like distress, frustration and avoidance of sexual intimacy.
Exact etiology and risk factors are unknown.
Urinary Incontinence
Urinary incontinence is the complaint of involuntary urine leakage.
Stress urinary incontinence is the involuntary urine leakage on effort or exertion or when coughing or sneezing.
Urge urinary incontinence is the one associated with or immediately preceded by urgency.
Mixed urinary incontinence is the involuntary urine leakage associated with both urgency and with exertion, effort, coughing or sneezing.