Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive defects in enzymes that are responsible for cortisol, aldosterone, and, in very rare cases, androgen synthesis. All forms of CAH are characterized by low levels of cortisol, high levels of ACTH, and adrenal hyperplasia. The exact clinical manifestations depend on the enzyme defect. The most common form of CAH, which is caused by a deficiency of 21β-hydroxylase, presents with hypotension, ambiguous genitalia, and virilization (in the female genotype), and/or precocious puberty (in both males and females). It is further characterized by hyponatremia, hyperkalaemia, and metabolic acidosis. Increased levels of 17-hydroxyprogesterone confirm the diagnosis of 21β-hydroxylase deficiency. Treatment of CAH involves lifelong glucocorticoid replacement therapy. Patients with a 21β-hydroxylase deficiency also require mineralocorticoid replacement with fludrocortisone. Complications of CAH include severe hypoglycaemia, adrenal insufficiency, and/or a failure to thrive.

The most probable diagnosis in this patient is Noonan syndrome.Noonan syndrome is an autosomal dominant condition characterised by short stature, heart defects (mainly pulmonary stenosis) and learning difficulties. An affected foetus can present with a significant increase in the nuchal thickness or a cystic hygroma of the neck. The condition is variable, and an affected parent is often only diagnosed after the diagnosis in the child.

The type of significance test used depends on whether the data is parametric (can be measured, usually normally distributed) or non-parametric.
Parametric tests:
Student’s t-test – paired or unpaired*
Pearson’s product-moment coefficient – correlation

Non-parametric tests:
Mann-Whitney U test – unpaired data
Wilcoxon signed-rank test – compares two sets of observations on a single sample
chi-squared test – used to compare proportions or percentages
Spearman, Kendall rank – correlation.

The outcome measured is not normally distributed, i.e. it is non-parametric. This excludes the Student’s t-tests. We are not comparing percentages/proportions so the chi-squared test is excluded. The Mann–Whitney U test is a nonparametric test of the null hypothesis that it is equally likely that a randomly selected value from one sample will be less than or greater than a randomly selected value from a second sample.
This test can be used to investigate whether two independent samples were selected from populations having the same distribution.

In the Hirschberg test, the corneal reflex should fall in the same place in both eyes. If there is a malalignment then the reflection of the light will appear in different places in the two eyes. The cover test is then used to differentiate between a latent deviation, or a manifest deviation.In the Bruckner test, the direct ophthalmoscope is used to obtain a red reflex simultaneously in both eyes. If strabismus is present, the deviated eye will have a lighter and brighter reflex than the fixating eye.The swinging flashlight test is a test of the pupils response to light, and to check for a relative afferent pupillary defect (RAPD).The Angle Kappa test measures the angle between the line of sight and the corneal-pupillary axis. It is a monocular measurement.

The hypothalamus and pituitary gland control how much testosterone the testes produce and secrete. The hypothalamus sends a signal to the pituitary gland to release gonadotrophic substances (follicle stimulating hormone and luteinizing hormone). Luteinizing hormone (LH) stimulates testosterone production.

Endoderm derivatives include the epithelium of the following: gastrointestinal tract and its glands, glandular cells of the liver and pancreases, urachus and urinary bladder, pharynx, trachea and alveoli, part of the tonsils, thyroid and parathyroid, tympanic cavity and thymus and part of the anterior pituitary gland.

Mittelschmerz is midcycle abdominal pain due to leakage of prostaglandin-containing follicular fluid at the time of ovulation. It is self-limited, and a theoretical concern is treatment of pain with prostaglandin synthetase inhibitors, which could prevent ovulation. The pain of mittelschmerz usually occurs in the lower abdomen and pelvis, either in the middle or to one side. The pain can range from a mild twinge to severe discomfort and usually lasts from minutes to hours. In some cases, a small amount of vaginal bleeding or discharge might occur. Some women have nausea, especially if the pain is very strong.Diagnosis of pelvic pain in women can be challenging because many symptoms and signs are insensitive and nonspecific. As the first priority, urgent life-threatening conditions (e.g., ectopic pregnancy, appendicitis, ruptured ovarian cyst) and fertility-threatening conditions (e.g., pelvic inflammatory disease, ovarian torsion) must be considered. Many women never have pain at ovulation. Some women, however, have mid-cycle pain every month, and can tell by the pain that they are ovulating.As an egg develops in the ovary, it is surrounded by follicular fluid. During ovulation, the egg and the fluid, as well as some blood, are released from the ovary. While the exact cause of mittelschmerz is not known, it is believed to be caused by the normal enlargement of the egg in the ovary just before ovulation. Also, the pain could be caused by the normal bleeding that comes with ovulation.Pelvic inflammatory disease can be ruled out if the patient is not sexually active.

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.

Answer: Do not operate and review the patient several weeks laterAir weapon injuries in children should be managed in the same way as any low velocity gun shot injury. Subcutaneous pellets are best removed. Urgent specialist referral is indicated for cranial, ocular, chest, abdominal, or vascular injuries as they may require emergency surgery. Cardiac injuries may be rapidly fatal. Penetrating abdominal injuries involving hollow viscera or major blood vessels need prompt exploration and repair. Intracranial air weapon pellets should be removed if possible. A pellet in lung parenchyma or muscle may be safely left in situ but there is a risk of infection. A pellet that has penetrated a joint or is associated with a fracture requires skilled orthopaedic management. A pellet lodged near a major blood vessel or nerve should ideally be removed. The possibility of intravascular embolism must be considered if the pellet is absent from a suspected entry site and there is no exit wound| numerous examples of arterial and venous embolism of an air weapon pellet in children have been described.In this case, the child seems well so there is no need to operate. He should be reviewed several weeks later.

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

“Tinea incognito” is a term used to describe a tinea infection modified by topical steroids. It is caused by prolonged use of topical steroids, sometimes prescribed as a result of incorrect diagnosis. Topical steroids suppress the local immune response and allow the fungus to grow easily. As a result, the fungal infection may take on the bizarre appearance seen in this patient.The diagnosis of tinea incognito is simple to confirm by microscopic visualization of branching hyphae and spores typical of dermatophytes in a potassium hydroxide preparation.Treatment of tinea incognito requires cessation of all topical steroid use and implementation of specific antifungal treatment. A low-potency corticosteroid may be used briefly to avoid the flare often associated with abrupt cessation of a potent steroid. Patients should be warned of this possibility so they do not reinstitute use of topical steroids on their own.

Cyanotic congenital heart disease (CCHD) is a common cause of neonatal morbidity and mortality. They can be classified as CCHD due to:- Right-to-left shunt, associated with the decreased pulmonary flow, e.g., tetralogy of Fallot (TOF), pulmonary atresia, right-sided hypoplastic heart,- Right-to-left shunt, associated with the decreased aortic flow, e.g., left-sided hypoplastic heart, interrupted arch, severe coarctation| – Bidirectional shunt, e.g., TGA, DORV, TA, etc. Eisenmenger syndrome is not a neonatal CCHD| rather it develops later in young adulthood secondary to various CHD.

Alpha-fetoprotein (AFP) is a plasma protein produced by the embryonic yolk sac and the fetal liver. AFP levels in serum, amniotic fluid, and urine functions as a screening test for congenital disabilities, chromosomal abnormalities, as well as some other adult occurring tumours and pathologies.Pregnant maternal serum AFP levels are elevated in:- Neural tube defects (e.g., spina bifida, anencephaly)- Omphalocele- Gastroschisis- posterior urethral valves- nephrosis- GI obstruction- teratomas

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections.
Acute leukaemia causes immunodeficiency but not so specific.
DiGeorge syndrome is due to lack of T cell function.
Aplastic anaemia and EBV infection does not cause immunodeficiency.

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.

Ewing’s sarcoma is formed by small, round, blue cells, and is common in children. The usually develop in limbs, and clinical findings include pain and inflammation, with lytic destruction showing up on X-rays.

Laxatives have been shown to be beneficial in the treatment of chronic childhood constipation. Studies have shown that polyethylene glycol, mineral oil, magnesium hydroxide, and lactulose are effective and can be used for a prolonged periods without risk.

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21.Currently, most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ).The main clinical features represent the clues for the diagnosis in the perinatal period and include prenatal growth deficiency, characteristic craniofacial features (dolichocephaly, short palpebral fissures, micrognathia external anomalies of the ears, and redundant skin at the back of the neck), distinctive hand posture (overriding fingers: index finger overlapping the third and 5th finger overlapping the 4th), nail hypoplasia, short hallux, underdeveloped thumbs, short sternum, and club feet and major malformations (particularly involving the heart).

A micturating cystourethrogram (MCUG) is one type of imaging test also called a voiding cystourethrogram (VCUG). The MCUG can check whether the flow of urine from the child’s bladder is being blocked, or whether it goes up the wrong way. It can help diagnose certain conditions, including vesicoureteral reflux and posterior urethral valves.

Cystic fibrosis is a progressive, genetic disease. A defective gene causes a thick, sticky build-up of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. Since the digestive enzymes are not being made, the food is not completely digested making them bulky, smelly, and hard to flush away. Finger clubbing is a prominent feature of cystic fibrosis on most patients.