The patient has hyperprolactinaemia with otherwise normal oestradiol, FSH and LH. This is highly suggestive of Prolactinoma rather than a non functioning tumour.In polycystic ovaries, there is increase in the level of LH while FSH is normal or low.

Mild learning disabilities indicates an IQ = 50-70, or mental age of 9-12 years
Moderate learning disabilities indicates an IQ = 35-49, or mental age of 6-9 years
Severe learning disabilities indicates an IQ = 20-34, or mental age of 3-6 years
Profound learning disabilities indicates an IQ = 20, or mental age of less than 3 years
Average IQ is 100. The arbitrary cut-off to indicate learning disabilities is 70.

Congenital adrenal hyperplasia is a common cause of virilisation in females that can present as ambiguous genitalia at birth. Deficiency of the 21-alphahydroxylase enzyme is implicated in excess mineralocorticoid and androgens produced by the adrenal gland. Virilisation occurs when excess androgens are converted to testosterone in a genetically female foetus, causing the genitalia to resemble male genitalia. A deficiency of 5-alpha hydroxylase would rather decrease the production of testosterone and lead to the presentation of external female genitalia in a genetically male foetus. Autoantibodies against glutamic acid are seen in type 1 diabetes mellitus, while defects in the AIRE gene and the FOXP3 affect components of the immune system.

A not immunized patient with a clean wound requires an immediate vaccination against diphtheria, tetanus and polio, according to the Green Book of Immunisation against infectious disease. (The Green Book has the latest information on vaccines and vaccination procedures, for vaccine preventable infectious diseases in the UK.)

Language/Communication milestones of 2 years old:Points to things or pictures when they are named Knows names of familiar people and body parts Says sentences with 2 to 4 words Follows simple instructions Repeats words overheard in conversation Points to things in a book

Mumps presents with a prodromal phase of general malaise and fever. On examination there is usually painful parotid swelling which has high chances of becoming bilateral. In OM with effusion there are no signs of infection and the only symptom is usually hearing loss. Acute otitis externa produces otalgia as well as ear discharge and itching. Acute OM produces otalgia and specific findings upon otoscopy. In acute mastoiditis the patient experiences ear discharge, otalgia, headache, hearing loss and other general signs of inflammation.

A lymphangioma is a swelling or mass that occurs mainly in the head, neck, and mouth. Lymphangiomas are the result of a congenital condition and are usually apparent at birth, or at least by the time a person is 2 years old. It is rare in adult population and when detected, it can be treated with surgical excision. Branchial cyst in most cases does not transilluminate which lymphangioma does.

Multiple endocrine neoplasia type 1 is a rare, autosomal dominant disorder characterized by a higher propensity to develop various endocrine and nonendocrine tumours. The primary endocrine tumours that are a part of this disorder include carcinoid tumours and tumours of parathyroid, enteropancreatic, and anterior pituitary origin. Carcinoid tumours encountered in MEN type 1 are mostly of the foregut region. Non-endocrine tumours found in MEN type 1 include meningiomas and ependymomas, lipomas, angiofibromas, collagenomas, and leiomyomas. The pathogenesis of MEN type 1 is the inactivating mutation of the tumour suppressor gene MEN 1, which encodes the protein menin.

Among the given options, Di-George syndrome is not associated with adrenal gland disorders.Di-George syndrome is characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.A useful memory aid is CATCH-22:- Cardiac defects- Abnormal facial features- Thymic aplasia/hypoplasia- Cleft palate- Hypocalcaemia/Hypoparathyroidism- 22 – Due to 22q11 deletionOther options:- Addison’s disease is a result of adrenal hypofunction and may present with collapse secondary to a salt-losing crisis.- Congenital adrenal hyperplasia: CAH is caused by the deficiency of an enzyme (classically 21-hydroxylase deficiency) in the biosynthetic pathway in the adrenal cortex, leading to insufficient production of cortisol and aldosterone, and a build-up of 17-hydroxyprogesterone.- Cushing’s syndrome is a syndrome of cortisol excess. An adrenal tumour is a primary cause.- Pheochromocytoma is a catecholamine releasing tumour of the adrenal gland/s.

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic academia. The condition gets its name from the distinctive sweet odour of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. MSUD, also known as branched-chain ketoaciduria, is an aminoacidopathy due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.

Red blood cells (RBC) have a life span of 120 days in humans.Aging of RBC includes changes in many properties: decreased metabolic activity, morphological alterations, including decreased cell volume and changes in cell shape, and quantitative and qualitative modulations of the surface.

Answer: LaparoscopyThe diagnostic accuracy of laparoscopy for impalpable testis is well recognized. Approximately 20% of undescended testes are truly impalpable, and laparoscopy is actually regarded as the gold standard for their localization| none of the currently available imaging techniques (ultrasound, computerized tomography, or magnetic resonance imaging) has proven to be 100% reliable in predicting the presence or absence of a testis.In this respect, not only can laparoscopy be considered the most reliable tool to provide information on the location of the testis but also to confirm its absence.Undescended testes in boys is a very common congenital abnormality in which one or both testes does not reach the bottom of the scrotum prior to birth. The incidence of the condition is 3–5% among all boys at birth, and decreases to 0.8–1% after 6 months of age.Males with undescended testes have a lower sperm count, poorer quality sperm, and lower fertility rate, compared to males whose testicles descend normally| the rate of subfertility increases with bilateral involvement and increasing age at the time of orchidopexy.

The most probable diagnosis for this patient would be Crohn’s disease.Crohn’s disease:An inflammatory bowel disease which can affect any part of the bowel from the mouth to the anus. Symptoms include abdominal pain, diarrhoea, pyrexia and weight loss. Extra-intestinal manifestations include arthritis, uveitis, fatigue, anaemia and rashes including pyoderma gangrenosum and erythema nodosum.Other options:- Anorexia nervosa is an important diagnosis to consider. There are no indicators in the description that she has a fear of gaining weight or a strong desire to be thin.- Diabetic ketoacidosis is incorrect because there is no polydipsia or polyuria. A patient in DKA is more likely to present with vomiting and not diarrhoea.- Recurrent aphthous stomatitis is not a correct answer because it does not explain all of the symptoms described, only the mouth ulcers.- Ulcerative colitis (UC) is also incorrect. UC is a form of inflammatory bowel disease that causes inflammation in the colon. The main symptom is bloody stools, which is not mentioned as a feature in history.

Perthes’ disease is a disease of the hip in children. It presents with pain that is typically located in the groin area. The pain is often present only during physical activity. Most children seek medical attention because of limping.

Osgood–Schlatter disease is pain caused by inflammation of the patella tendon at the tibial insertion.

Slipped upper femoral epiphysis occurs classically in adolescence (M:F = 3:2)

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther options:- Schistocytes can be caused by mechanical heart valves. – Rouleaux can be seen in chronic liver disease and malignant lymphoma. – Tear-drop poikilocytes can be seen in myelofibrosis. – Acanthocytes can be seen in liver disease and McLeod blood group phenotype.Pathological red cell forms include:- Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.- Tear-drop poikilocytes: Myelofibrosis- Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia- Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia- Howell-Jolly bodies: Hyposplenism- Heinz bodies: G6PD deficiency and alpha-thalassaemiaSchistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation- Pencil poikilocytes: Iron deficiency anaemia- Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency – Acanthocytes: Abetalipoproteinemia

Blood tests do not help in the diagnosis of jaundice except of course by telling the level of jaundice (bilirubin) and providing some corroborative evidence such as autoantibodies, tumour markers or viral titres in the case of hepatitis. Classifying causes of jaundice on the basis of ultrasound provides a quick and easy schema for diagnosing jaundice which is applicable in primary care as well as hospital based practice.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

The most probable cause for the patient’s presenting symptoms is Sarcoptes scabeii.Scabies:The boy in the scenario presents with a pruritic rash affecting the palms of the hands, especially in the web spaces between the fingers. Additionally, the fact that his sister is showing similar symptoms is an indication of its infectivity. The female Sarcoptes scabiei var hominis mite burrows into the webs of fingers and the sides of digits as seen in the child.This parasitic skin infestation presents typically with nocturnal itching. Other options:- Herpes simplex virus type 1 (HSV-1): This can affect this age group but would usually present with a vesicular perioral rash with associated erythema. – Human papillomavirus (HPV): Cutaneous human papillomavirus infection causes warts, which can form a dome and fleshy shaped lesions on the palms of the hands, but these are not usually itchy. Similar to the causative agent in the boy, they are contagious.- Poxvirus: These viruses cause molluscum contagiosum which presents as dome-shaped lesions anywhere on the body, rather than specifically in palms of hands or finger webs as seen in the boy. Poxviruses are also very infectious.- Staphylococcal infection: This causes impetigo, which presents with yellow discharge and underlying erythema. Impetigo is not usually itchy and can present on any part of the body, rather than the specific areas seen in the boy.

Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.

The percentages of body water contained in various fluid compartments add up to total body water (TBW). This water makes up a significant fraction of the human body, both by weight and by volume. Ensuring the right amount of body water is part of fluid balance, an aspect of homeostasis. The extracellular fluid (ECF) includes all fluids outside the cells. This fluid can be divided into three fluid departments: interstitial (in the tissue spaces) fluid, blood plasma and lymph, and specialised compartments called transcellular fluid. The extracellular fluid surrounds all the cells in the body and is in equilibrium with the intracellular fluid. So, its composition must remain fairly constant even though substances are passing into and out of the cells. The interstitial fluid, though called a fluid, is in a reality a gel-like composition made up of: water, proteoglycan molecules and collagen. The extracellular fluid constitutes 40% of total body water, with intracellular fluid making up the remaining 60%. It is relatively rich in glucose.

According to NICE guidelines:Do not offer lithium to women who are planning a pregnancy or pregnant, unless antipsychotic medication has not been effective.If antipsychotic medication has not been effective and lithium is offered to a woman who is planning a pregnancy or pregnant, ensure:the woman knows that there is a risk of fetal heart malformations when lithium is taken in the first trimester, but the size of the risk is uncertain. Lithium levels may be high in breast milk with a risk of toxicity for the baby.If a woman taking lithium becomes pregnant, consider stopping the drug gradually over 4 weeks if she is well. Explain to her that:stopping the medication may not remove the risk of fetal heart malformations and there is a risk of relapse, particularly in the postnatal period, if she has bipolar disorder.If a woman taking lithium becomes pregnant and is not well or is at high risk of relapse, consider:switching gradually to an antipsychotic or stopping lithium and restarting it in the second trimester (if the woman is not planning to breastfeed and her symptoms have responded better to lithium than to other drugs in the past) or continuing with lithium if she is at high risk of relapse and an antipsychotic is unlikely to be effective. If a woman continues taking lithium during pregnancy:- check plasma lithium levels every 4 weeks, then weekly from the 36th week. Adjust the dose to keep plasma lithium levels in the woman’s therapeutic range- ensure the woman maintains an adequate fluid balance- ensure the woman gives birth in the hospital- ensure monitoring by the obstetric team when labour starts, including checking plasma lithium levels and fluid balance because of the risk of dehydration and lithium toxicity- stop lithium during labour and check plasma lithium levels 12 hours after her last dose.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. The consequences of this deficiency are numerous electrolyte and acid-base imbalances, which include hyponatremia, hyperkalaemia, hypercalcemia, hypoglycaemia, metabolic alkalosis, and dehydration.

The perinatal mortality rate is defined as the number of perinatal deaths per 1000 total births. Perinatal death includes the death of a live-born neonate within 7-days of life (early neonatal death) and the death of a fetus ≥ 22 weeks of gestation (stillbirth). Hence, the perinatal mortality rate is calculated by dividing the number of still births+ the number of early neonatal deaths by 1000 births.

The boy needs re-hydration due to his full thickness burn so IV fluids is the next most appropriate step. The greatest loss of plasma occurs in the first 12 hours after burn injury. The plasma loss then slowly decreases during the second 12 hours of the post-burn phase, although extensive leakage can continue for up to three days (Ahrns, 2004). Optimal fluid replacement during this period is essential to ensure cardiac output and renal and tissue perfusion. Usually, 36 hours post-burn, capillary permeability returns to normal and fluid is drawn back into the circulation. Burns of more than 15% of surface body area in adults and of over 10% in children warrant formal resuscitation.The Parkland formula for the total fluid requirement in 24 hours is as follows:4ml x TBSA (%) x body weight (kg)|50% given in first eight hours|50% given in next 16 hours.Children receive maintenance fluid in addition, at an hourly rate of:4ml/kg for the first 10kg of body weight plus|2ml/kg for the second 10kg of body weight plus|1ml/kg for >20kg of body weight.End pointUrine – adults: 0.5–1.0 ml/kg/hour|Urine – children: 1.0–1.5ml/kg/hour.

4-year-old milestonesSocial and EmotionalEnjoys doing new things Plays “Mom” and “Dad” Is more and more creative with make-believe play Would rather play with other children than by himself Cooperates with other children Often can’t tell what’s real and what’s make-believe Talks about what she likes and what she is interested in Language/CommunicationKnows some basic rules of grammar, such as correctly using “he” and “she” Sings a song or says a poem from memory such as the “Itsy Bitsy Spider” or the “Wheels on the Bus” Tells stories Can say first and last nameCognitive (learning, thinking, problem-solving)Names some colours and some numbers Understands the idea of counting Starts to understand time Remembers parts of a story Understands the idea of “same” and “different” Draws a person with 2 to 4 body parts Uses scissors Starts to copy some capital letters Plays board or card games Tells you what he thinks is going to happen next in a book Movement/Physical DevelopmentHops and stands on one foot up to 2 seconds Catches a bounced ball most of the time Pours, cuts with supervision, and mashes own food

Unprotected anal or vaginal sexual intercourse with an infected individual is by far the most common (95%) route by which HIV is transmitted. Other options:- Blood transfusion is an extremely rare cause of HIV transmission in the UK. – While HIV can be transmitted from mother to baby either during birth or via breastfeeding, the transmission rate is only 5 – 20%.- Sharing contaminated needles does put individuals at risk of getting HIV, although public health measures are in place to reduce this risk. – Although HIV can be transmitted via this route, it is around ten times less likely to result in transmission than unprotected anal or vaginal intercourse with an infected individual.

Distal renal tubular acidosis (dRTA) is characterised by a decreased hydrogen ion excretion from the alpha intercalated cells of the collecting duct of the distal nephron. The resultant acidosis causes calcium and phosphates to be released from bones to buffer the acidosis causing hypercalciuria. This precipitates calcium compounds in the kidney, predisposing it to renal stone formation. On the other hand, proximal renal tubular acidosis is characterised by an impairment in bicarbonate resorption. Both types lead to metabolic acidosis and electrolyte imbalances including potassium depletion. Children often present with failure to thrive. One way to differentiate between the two conditions is with an acid challenge test. In proximal RTA (type 2) administering an ammonium chloride load will decrease the urinary pH whereas in distal disease (type 1), the urine pH will not decrease below 5.3.

Acute lymphoblastic leukaemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, frequent infections with fever as well as anaemia with thrombocytopenia. As an acute leukaemia, ALL progresses rapidly and is typically fatal within weeks or months if left untreated. The patient’s age also favours the diagnosis of ALL as it occurs most commonly in children, particularly those between the ages of two and five.

By 15 months, it’s common for many toddlers to:- say three to five words.- understand and follow simple commands.- point to one body part.- walk alone and begin to run.- climb on furniture.- make marks with a crayon.- imitate activities, such as housework.

Infective endocarditis occurs when microorganisms enter the bloodstream and infect damaged endocardium or endothelial tissue. It most commonly involves the heart valves (either native or prosthetic), but it may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. The prototypic lesion is at the site of the infection| the vegetation is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. Endocarditis is classified as acute or subacute, which applies to the features and the progression of infection until diagnosis.The oral cavity, the skin, and the upper respiratory tract are the primary portals for Streptococcus viridans| Staphylococcus species| and Haemophilus aphrophilus, Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae (HACEK) organisms. Streptococcal and staphylococcal organisms are responsible for more than 80% of cases of bacterial IE.Streptococcus viridans accounts for approximately 50-60% of cases of subacute disease.While S aureus infection is the most common cause of IE, including Prosthetic valve endocarditis, acute IE, and IV Drug Abusers IE