Three physical changes – breast budding, pubic hair growth, and axillary hair growth in the order mentioned precede menarche. These changes are due to oestrogen, a hormone essential for pubertal development.The various pubertal changes in males include:-Testicular growth: It is the first sign of puberty occurring at around 12 years of age (Range = 10 – 15 years).- Testicular volume: An increase in the volume of testicles to 4 ml indicates the onset of pubertyThe various pubertal changes in females include:- The first sign is breast development at around 11.5 years of age (range = 9-13 years)- Followed by the onset of height spurt reaching the maximum in puberty (at 12 years of age)- The final change that occurs is termed menarche at 13 (11-15) years of age.Some of the other pubertal changes include:- Gynecomastia may develop in boys- Asymmetrical breast growth may occur in girls- Diffuse enlargement of the thyroid gland

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

The most worrying condition is testicular torsion and to exclude it exploratory surgery is required.

Congenital hypothyroidism (CH) is inadequate thyroid hormone production in new-born infants. It can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.CH is the most common neonatal endocrine disorder, and historically, thyroid dysgenesis was thought to account for approximately 80% of cases. However, studies have reported a change in the epidemiology, with a doubling in incidence to around 1 in 1500 live new-borns.‹Infants with congenital hypothyroidism are usually born at term or after term. Symptoms and signs include the following:Decreased activityLarge anterior fontanellePoor feeding and weight gainSmall stature or poor growthJaundiceDecreased stooling or constipationHypotoniaHoarse cryProlonged neonatal jaundice or unconjugated hyperbilirubinemia

Puberty is when a child’s body begins to develop and change as they become an adult.The average age for girls to begin puberty is 11, while for boys the average age is 12.It’s completely normal for puberty to begin at any point from the ages of 8 to 14. The process can take up to 4 years.

The clinical picture suggests that the child is severely dehydrated. IV fluid bolus then IV maintenance fluids is the correct option.

Erythema multiforme lesions typically heal without scarring. Other options:- In erythema multiforme, lesions are typically symmetrical and acral, i.e. on the hands, feet and limbs. – HSV is a common cause of erythema multiforme in children, accounting for at least 50% of cases; the lesions typically have damaged skin in the centre and are dusky and bullous (in contrast to urticaria, where the centre of the lesion is normal).

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.

Epilepsy is a common paediatric neurologic disorder characterized by seizures of varying frequency and intensity. There are many childhood or infantile epilepsy syndromes that can be categorized as benign epilepsy syndromes as the child suffering from these usually outgrows them after reaching a certain age, and they do not lead to significant cognitive or physical impairment. Some of these may not need any treatment. Such benign epilepsy syndromes include benign rolandic epilepsy, Panayiotopoulos syndrome, Gastaut type-idiopathic childhood occipital epilepsy, and idiopathic photosensitive occipital lobe epilepsy. West syndrome, also called infantile spasms, is a serious infantile epileptic encephalopathy, characterized by multiple clusters of myoclonic spasms, and regression of the previous normally attained milestones. It is associated with severe cognitive and physical impairment, often leading to life long disability.

The structure in question is the rectus sheath. This sheath encloses the rectus abdominis muscle and thus, will be encountered by the surgeon.Note:- Midline incision: It is the most common approach to the abdomen. The structures divided during this incision are linea alba, transversalis fascia, extraperitoneal fat, and peritoneum ( with care taken to avoid the falciform ligament above the umbilicus).The bladder can be accessed via an extraperitoneal approach through the space of Retzius.- Paramedian incision: It is an incision that is made parallel to the midline. The structures divided or retracted are anterior rectus sheath, rectus (retracted), posterior rectus sheath, transversalis fascia, extraperitoneal fat, and peritoneum.- Battle incision: It is similar to a paramedian but the rectus is displaced medially (and thus denervated).- Kocher’s incision: It is an incision made under the right subcostal margin, e.g. cholecystectomy (open).- Lanz incision: It is an incision in the right iliac fossa, e.g. appendicectomy.Gridiron incision: It is an oblique incision centred over the McBurney’s point – usually used for appendicectomy (less cosmetically acceptable than LanzPfannenstiel’s incision: It is a transverse suprapubic incision, primarily used to access pelvic organs.McEvedy’s incision: It is a groin incision used for emergency repair strangulated femoral hernia.Rutherford Morrison incision: It provides an extraperitoneal approach to left or right lower quadrants. It provides excellent access to iliac vessels and is the approach of choice for first-time renal transplantation.

Severe cyanotic heart diseases such as pulmonary stenosis, transposition of the great vessels, hypoplastic left heart syndrome and truncus arteriosus all run the risk of a poor prognosis for a neonate. To continue the supply of oxygen the ductus arteriosus must be kept patent. This can be done with the immediate administration of Prostaglandin E1 as a temporary measure until a surgical intervention such as an atrial septostomy can be done. The closure of the duct can subsequently be initiated with the administration of indomethacin and oxygen.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

The most appropriate management would be to reassure the parents, as nasolacrimal duct dysfunction in most infants tends to resolve spontaneously.Note:Nasolacrimal duct blockage occurs in up to 5% of new-borns. 90% of these babies spontaneously resolve in the first year of life. They do not require urgent ophthalmological review, as often advice and reassurance for parents suffice for up to the age of 18 months old or so. A lump can often be seen in the nasolacrimal region following the accumulation of mucous. This does not need to be treated with antibiotics unless there are signs of acute infection.Other options:- The child does not require urgent ophthalmology review as there are no signs of severe infection. Watery eyes often lead to mucous production, which is a common non-worrying sign.- A course of topical antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.- A course of topical and oral antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical and oral antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.- Reassurance is necessary. However, the advice that the child most likely will need a surgical procedure to resolve this is incorrect. Reassurance, but include advice that the child most likely will need a surgical procedure to resolve this is incorrect as 90% of infants that have these symptoms and signs resolve within the first year of life.

A patient with Down’s syndrome is likely to be subfertile rather than infertile.Down’s syndrome:The clinical features of Down’s syndrome include:- Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small ears, and round/flat face- Flat occiput- Single palmar crease, pronounced ‘sandal gap’ in the first interdigital space of the feet.- Hypotonia- Congenital heart defects (40-50%)- Duodenal atresia- Hirschsprung’s diseaseThe cardiac complications in these patients include:- Endocardial cushion defect (40%)- Ventricular septal defect (30%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (5%)- Isolated patent ductus arteriosus (5%)The complications that occur later in the life of the patient include:- Subfertility: Males are almost always infertile due to impaired spermatogenesis. Females, however, are usually subfertile and have an increased incidence of problems with pregnancy and labour.- Learning difficulties- Short stature- Repeated respiratory infections (+hearing impairment from glue ear)- Acute lymphoblastic leukaemia- Hypothyroidism- Alzheimer’s disease- Atlantoaxial instability

McBurney’s point is found 2/3rds of the way along an imaginary line that runs from the umbilicus to the anterior superior iliac spine on the right-hand side. On examination, features of generalised peritonitis can be observed if the appendix has perforated.Retrocecal appendicitis may have relatively fewer signs.Digital rectal examination may reveal boggy sensation if a pelvic abscess is present.Diagnosis is typically based on raised inflammatory markers coupled with compatible history, and examination findings.Ultrasound is useful in females where pelvic organ pathology can be a close differential diagnosis. Although it is not always possible to visualise the appendix on ultrasound, the presence of free fluid (always pathological in males) should raise suspicion. Ultrasound examination can also show evidence of luminal obstruction and thickening of the appendix.Management: Definitive management of appendicitis and appendicular perforation is appendicectomy which can be performed via either an open or laparoscopic approach.Simultaneous administration of metronidazole reduces wound infection rates. Patients with perforated appendicitis require copious abdominal lavage. Patients without peritonitis who have an appendix mass should receive broad-spectrum antibiotics and consideration given to performing an interval appendicectomy.

Cystic fibrosis has an autosomal recessive pattern of inheritance, meaning that a person might be a carrier of the disease without developing it. If the unaffected partner is a carrier, then there is a 50% chance of inheritance and another 50% chance of having a child who is a carrier. However, if the partner is not a carrier, the offspring will not develop the disease but the possibility of being a carrier raises up to 100%.

Live virus vaccines include: Vaccinia (smallpox), Measles, Mumps, Rubella (MMR combined vaccine), Varicella (chickenpox), Influenza (nasal spray), Rotavirus, Zoster (shingles) and Yellow fever. Inactivated vaccines are Polio (IPV), Hepatitis A and Rabies.

The European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine Rotterdam consensus (ESHRE/ASRM) developed and enlarged the diagnosis of PCOS, requiring two of three features: anovulation or oligo-ovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology (PCOM) seen on ultrasound. Finally the Androgen Excess Society defined PCOS as hyperandrogenism with ovarian dysfunction or polycystic ovaries

An enlarged lymph node does not necessarily need treatment especially if it is caused by a virus. If it is bacterial, antibiotics should be prescribed. Amoxicillin is first line treatment in non-penicillin allergic patients and side effects include allergic reactions like skin rash and itching

The most probable diagnosis for this patient would be Kawasaki disease.Kawasaki disease:It is an acute systemic disorder of childhood that predominantly occurs in Japan (800 cases per million in children under the age of 5 years). The causative factor is not known, but mycoplasma and HIV infection may be associated in some cases. Clinical Features:The principal clinical features are fever persisting for more than five days, bilateral non-purulent conjunctival congestion, cervical lymphadenopathy, polymorphous rash, arthralgia, palmar erythema and strawberry tongue. Other options:- Diffuse cutaneous systemic sclerosis is associated with skin, renal and gut involvement. Arthralgia, morning stiffness and flexor tenosynovitis are common. – Behcet syndrome is a vasculitis of unknown aetiology that characteristically targets venules. – Felty syndrome is the association of splenomegaly and neutropenia with rheumatoid arthritis. Lymphadenopathy is common, and there is a predisposition to recurrent infections.

As this boy has experienced significant dry spells in the past, it is unlikely that a structural abnormality is causing the enuresis. The only therapies that have been shown to be effective in randomized trials are alarm therapy and treatment with desmopressin acetate or imipramine. Bladder training exercises are not recommended. Desmopressin acetate is the preferred medication for treating children with enuresis.

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in colour, and low-set ears that are rotated backwards. Affected individuals may have a high-arched palate, poor teeth alignment, and micrognathia. Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.Between 50 and 70 % of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. Individuals with Noonan syndrome often have either a pectus excavatum or pectus carinatum. Some affected people may also have scoliosis.Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is pulmonary valve stenosis. Some have hypertrophic cardiomyopathy.A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth.Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have an intellectual disability. Some affected individuals have vision or hearing problems. It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukaemia or other cancers over age-matched peers.

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.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

Breastfeeding may be significantly impaired (up to 25%) by breast augmentation. Equally, breast engorgement, which occurs due to vascular congestion, reduces nipple protrusion and subsequent ability to breastfeed successfully. In the latter, regular feeding or expressing is required.

Zona fasciculata of the adrenal produces the maximum levels of cortisol in the body.Functions of cortisol:- Increases blood pressure: permits normal response to angiotensin II and catecholamines by up-regulating alpha-1 receptors on arterioles.- Inhibits bone formation: decreases osteoblasts, type 1 collagen and absorption of calcium from the gut, and increases osteoclastic activity.- Increases insulin resistance.- Increases gluconeogenesis, lipolysis and proteolysis.- Inhibits inflammatory and immune responses.- Maintains function of skeletal and cardiac muscle.An excess of corticosteroids in the body causes various symptoms that are a part of Cushing’s syndrome.

The most overt phenotypic features of Klinefelter syndrome are caused by testosterone deficiency and, directly or indirectly, by unsuppressed follicle-stimulating and luteinizing hormones. Affected men typically have (in decreasing order of frequency): infertility, small testes, decreased facial hair, gynecomastia, decreased pubic hair, and a small penis. Because of their long legs, men with Klinefelter syndrome often are taller than predicted based on parental height. Body habitus may be feminized. In childhood, when there is a relative quiescence in the hormonal milieu, ascertainment of the syndrome may be difficult because the effects of hypogonadism (i.e., small external genitalia and firm testes) may be subtle or not present at all.

At the age of 6 months, children can begin to be weaned off breastmilk and formula feeds. One healthy and inexpensive way to do this is through infant led weaning as opposed to the conventional spoon feeding method. Children are able to enjoy a variety of soft finger foods even before they grow teeth, so all food does not need to be pureed or sweet. Children should however not be given cow’s milk until the age of 1 year.

Liddle’s syndrome,  is an autosomal dominant disorder, that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule. Bartter Syndrome also presents with hypokalaemia, however blood pressure of these patients is usually low or normal.

Bone age is a valuable tool for determining the skeletal maturation in children. An X-ray of the left hand and wrist or knee is used to calculate bone age, which is then compared with the chronological age of the subject to know if the bone age is advanced or delayed. Certain standardized methods are used to score skeletal maturity; most common methods are the Tanner-Whitehouse (TW) and Greulich-Pyle (GP) methods. The growth plate comprises a resting zone, a proliferative zone, hypertrophic cartilage zone, calcified cartilage zone, and then the ossification zone. This is the zonal distribution from the epiphysis to the diaphysis. After the closure of growth plates, spinal growth still occurs to some extent, adding up to the final height. The growth plates in boys close at around 17 to 19 years of age, while in girls, they close at around 13 to 15 years.