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 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

The average age for girls to begin puberty is 11.The first sign of puberty in girls is usually that their breasts begin to develop.It’s normal for breast buds to sometimes be very tender or for one breast to start to develop several months before the other one.Pubic hair also starts to grow, and some girls may notice more hair on their legs and arms.After a year or so of puberty beginning, and for the next couple of years:girls’ breasts continue to grow and become fuller.Around 2 years after beginning puberty, girls usually have their first period,pubic hair becomes coarser and curlierunderarm hair begins to grow. From the time their periods start, girls grow 5 to 7.5cm (2 to 3 inches) annually over the next year or two, then reach their adult height.After about 4 years of puberty in girls:breasts become adult-likepubic hair has spread to the inner thighgenitals should now be fully developedgirls stop growing taller.

The thymus is a lymphoid organ located in the anterior mediastinum. In early life, the thymus is responsible for the development and maturation of cell-mediated immunologic functions. The thymus is composed predominantly of epithelial cells and lymphocytes. Precursor cells migrate to the thymus and differentiate into lymphocytes. Most of these lymphocytes are destroyed, with the remainder of these cells migrating to tissues to become T cells.DiGeorge’s syndrome (DGS) is a developmental abnormality affecting the thymus. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia).

Tanner stage two presents with the following: Downy hair, Breast bud palpable under areola (1st pubertal sign in females).Stage 1 (prepubertal) – elevation of papilla only – no pubic hairStage 2 – breast bud forms – sparse, slightly pigmented hair on labia majoraStage 3 – Breast begins to become elevated, extends beyond areola borders – hair becomes more coarse and curlyStage 4 – increased size and elevation. Areola and papilla form secondary mound – adult like, but sparing medial thighsStage 5 – final size, areola returns but papilla remains projected – hair extends to medial thighs

Precocious Puberty is the development of secondary sexual characteristics before the age of 8 in females, and 9 in males. The first sign of early puberty in males is testicular enlargement, followed by growth of the penis and the scrotum at least a year after. Precocious puberty in boys in uncommon and usually has an organic cause leading to excess secretion of testosterone. These can be gonadotrophin dependent in the case of an inter cranial lesion, where the testes would be bilaterally enlarged, or from excess production from the adrenal gland in the case of adrenal hyperplasia or a tumour.

The boy presented with mild hypoglycaemia and should be managed at home with fast-acting carbs. He should not sleep immediately. His parents should monitor his blood glucose every hour without letting him sleep in between.

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Addison disease is adrenocortical insufficiency due to the destruction or dysfunction of the entire adrenal cortex. It affects glucocorticoid and mineralocorticoid function. The onset of disease usually occurs when 90% or more of both adrenal cortices are dysfunctional. The most common symptoms are fatigue, muscle weakness, loss of appetite, weight loss, and abdominal pain. Adrenal insufficiency can be caused by autoimmune disease or suddenly stopping steroid medicines used to treat other conditions, among other causes.

Hypogonadotropic hypogonadismIn Kallmann syndrome: impaired migration of GnRH cells and defective olfactory bulb → ↓ GnRH in hypothalamus → ↓ FSH and ↓ LH → ↓ testosterone and ↓ oestrogenIn hypothalamic and/or pituitary lesions: ↓ pituitary gonadotropins (↓ FSH and ↓ LH) → ↓ testosterone and ↓ oestrogen

The adult height potential may be calculated for a male child by (father’s height in cm + mother’s height in cm) / 2 then add 7 cm.In the scenario provided: (170 + 150)/2 + 7 = 167 cm = 1.67 m.For a female child by (father’s height in cm + mother’s height in cm) / 2 then minus 7 cm.This can then be plotted on a height centile chart to find the mid-parental centile.Causes of short stature include:- Normal variant (often familial)- Constitutional delay of growth and puberty- Chronic illness, e.g. cystic fibrosis, inflammatory bowel disease- Endocrine: growth hormone deficiency, hypothyroidism, steroid excess syndromes: Turner’s, Down’s, Prader-Willi- Skeletal dysplasias, e.g. achondroplasia

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.

The child’s problem should be assessed properly to find the reason for unhappiness at the school. There can be many reasons such as bullying at school, abuse etc. A clinical psychologist should assess this child to take the necessary details and plan the further management.

Insertion sites and sensor sites should be rotated each time the infusion set or glucose sensor is changed. This keeps the tissue healthy and allows previous sites to completely heal before reusing them. Change infusion set every 2 to 3 days to help prevent infection.

Graves disease is an autoimmune disorder in which patients present with thyrotoxicosis and related ophthalmopathy, and dermopathy. Many affected patients experience hyperthyroidism. Peak incidence of graves disease is after the 3rd decade of life and is more common in women than in men. Graves susceptibility is association with HLA-DR3. Clinical features of Graves disease include an increased metabolic rate, heat intolerance, irritability, weight loss despite increasing appetite, diarrhoea palpitations, chemosis, acropachy and onycholysis.

Based on the clinical presentation, the pubic hair development is in Tanner stage 2.The Tanner stages for pubic hair are as follows:Stage 1 – pre-adolescentStage 2 – sparse hair that is long, slightly pigmented and downyStage 3 – hair spread over the junction of the pubes, darker and coarserStage 4 – adult-type hair, but the area covered is smaller than it is in an adult.Stage 5 – adult in quantity and type

A height that is above the 97th percentile for age and sex is described as a tall stature. The most common cause of tall stature is constitutional or familial, followed by nutritional causes. Hormonal causes of tall stature include hyperthyroidism, growth hormone excess, and precocious puberty. Some important chromosomal and syndromic causes of tall stature are Klinefelter’s syndrome, homocystinuria, Marfan’s syndrome, Sotos syndrome, Beckwith-Weidman syndrome, and Weaver syndrome. Laurence-Moon syndrome is an autosomal recessive disorder characterized by short stature, retinitis pigmentosa, and spastic paraplegia.

Cases of neonatal infant ambiguous genitalia can be a great source of psychological stress for families. One of the most important next steps in managing the case is reassuring the parents that the best care will be given to the baby and then informing them about the investigations that will need to be performed before a sex can be assigned. The sex should not be guessed just by examination nor assigned by karyotyping. Thorough investigations must be completed with the help of endocrinologists for the best outcome.

Findings described are suggestive of Waterhouse-Friderichsen syndrome which develops secondary to meningococcaemia. The reported incidence of Addison’s disease is 4 in 100,000. It affects both sexes equally and is seen in all age groups. It tends to show clinical symptoms at the time of metabolic stress or trauma. The symptoms are precipitated by acute infections, trauma, surgery or sodium loss due to excessive perspiration.

In older children who are able to have regular meal timings, the insulin regimen of choice is the basal-bolus regimen, which comprises a dose of long-acting insulin in combination with three doses of short-acting insulin. The dosage timings coincide with the meal times, ensuring greater flexibility and feasibility. The long-acting insulin serves to provide a stable glycaemic control. The other given regimens are suitable for younger children with a more irregular meal schedule.

Exposure to excessive androgens is usually accompanied by premature epiphyseal maturation and closure, resulting in a final adult height that is typically significantly below that expected from parental heights. congenital adrenal hyperplasia (CAH) is associated with precocious puberty caused by long term exposure to androgens, which activate the hypothalamic-pituitary-gonadal axis. Similarly, CAH is associated with hyperpigmentation and hyperreninemia due to sodium loss and hypovolaemia.

Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of Congenital Adrenal Hyperplasia, accounting for more than 90% of cases.Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)Diagnosis of 21-hydroxylase deficiency: High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease| 24-hour urinary 17-ketosteroid levels are elevated

The most probable diagnosis for this boy is primary hypothyroidism.Rationale:The development of secondary sexual characteristics in a boy aged less than 9 years of age is highly suggestive of precocious puberty.Around 80% of boys with precocious puberty have pathological causes and require detailed investigation. In this case, the child has long-standing short stature but coupled with the early puberty and delay in bone age, the diagnosis is primary hypothyroidism, which is the only cause of this clinical picture.

HbA1c stands for glycated haemoglobin. In patients with haemolytic diseases associated with a shortened RBC survival, HbA1c levels can be unusually low despite controlled diabetes mellitus.These haemolytic diseases can include glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.HbA1c:It is a measure of non-enzymatic glycation which occurs due to haemoglobin’s exposure to plasma glucose. As plasma glucose increases so does HbA1c.The level of HbA1c quantitively assesses the control of diabetes mellitus over the last 120 days (as this is the life span of a red blood cell).Haemoglobin type A is separated on cation exchange chromatographyOther subsections include HbA1O, HbA1a, HbA1b.According to the updated NICE recommendations (2015):The target level of HbA1c in children with T1DM is 48 mmol/mol (6.5%) or lower. It is monitored every three months. Better control is associated with fewer long term complications

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes’ pubertal development.Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and treatment.Since she is still 14, adequate diet and observation are enough.

Congenital hypothyroidism is one of the most important diseases of the new-born, which may lead to mental and physical retardation when treatment is delayed or an appropriate dosage of thyroxine is not administered. The most alarming and earliest sign is jaundice, especially when it is prolonged, during the neonatal period.

McCune–Albright syndrome, characterised by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands, is the result of G-protein abnormality.

Androgen insensitivity syndrome (AIS), previously referred to as testicular feminization, is an X-linked disorder in which the patients are genotypically male (possessing and X and Y chromosome) and phenotypically female. This disorder is rare, with reported incidences from 1 in 20,000 to 1 in 60,000 live male births, and is the result of a missing gene on the X chromosome that is responsible for the cytoplasmic or nuclear testosterone receptor. In its absence, the gonad, which is a testis, produces normal amounts of testosterone| however, the end tissues are unable to respond due to the deficient receptors leading to the external genitalia developing in a female fashion. Anti-Mullerian hormone, which is produced by the testis, is normal in these patients, leading to regression of the Mullerian duct. Wolffian duct development, which depends on testosterone, does not occur as the ducts lack the receptors. The cumulative effect is a genotypic male with normal external female genitalia (without pubic or axillary hair), no menses, normal breast development, short or absent vagina, no internal sex organs, and the presence of testis. Frequently, these patients have bilateral inguinal hernias in childhood, and their presence should arouse suspicion of the diagnosis.

The patient is most likely to have Bulimia nervosa. A young girl with a low body mass contributes to the low urea. Hypokalaemia and hyponatraemia are due to vomiting. Her urine sodium is also low.- In Addison’s diseases, there are low levels of sodium and high levels of potassium in the blood. In acute adrenal crisis: The most consistent finding is elevated blood urea nitrogen (BUN) and creatinine. Urinary and sweat sodium also may be elevated. – In Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) there is hyponatremia with corresponding hypo-osmolality, continued renal excretion of sodium, urine less than maximally dilute and absence of clinical evidence of volume depletion.

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.

Metformin works by improving the sensitivity of peripheral tissues to insulin, which results in a reduction of circulating insulin levels. Metformin inhibits hepatic gluconeogenesis and it also increases the glucose uptake by peripheral tissues and reduces fatty acid oxidation. Metformin has a positive effect on the endothelium and adipose tissue independent of its action on insulin and glucose levels.Metformin was the first insulin sensitising drug (ISD) to be used in PCOS to investigate the role of insulin resistance in the pathogenesis of the syndrome Several effects have been reported as related to metformin in PCOS patients including restoring ovulation, reducing weight, reducing circulating androgen levels, reducing the risk of miscarriage and reducing the risk of gestational diabetes mellitus (GDM). Other studies have reported that the addition of metformin to the ovarian stimulation regime in invitro fertilization (IVF) improves the pregnancy outcome. These effects will be addressed individually.

Diabetes insipidus (DI) is defined as the passage of large volumes (>3 L/24 hr) of dilute urine (< 300 mOsm/kg). It has the following 2 major forms:Central (neurogenic, pituitary, or neurohypophyseal) DI, characterized by decreased secretion of antidiuretic hormone (ADH| also referred to as arginine vasopressin [AVP])Nephrogenic DI, characterized by decreased ability to concentrate urine because of resistance to ADH action in the kidney.The boy most probably has nephrogenic diabetes insidious (DI) not central DI so he is not responding to the ADH treatment.

This girl most likely has Turner syndrome (TS) also known as 45,X, a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person’s parents. No environmental risks are known and the mother’s age does not play a role. As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms including prescribing growth hormone, either alone or with a low dose of androgen, and oestrogen replacement therapy which is crucial long term for maintaining good bone integrity, cardiovascular health and tissue health

Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.

Klinefelter’s syndrome: The low follicle-stimulating hormone (FSH) and luteinising hormone (LH), together with the low testosterone, suggests a hypogonadotropic hypogonadism. We know that there is no mental retardation, and we are told that physical examination is normal and sense of smell would usually not be tested. Consequently a diagnosis of Kallman’s is suggested. We are not told of a family history of growth delay, thus this is unlikely to be constitutional delay. The thyroid-stimulating hormone (TSH) is normal, making hypothyroidism unlikely and this together with the normal prolactin make hypopituitarism most unlikely.

The child has experienced the Somogyi phenomenon. It is a phenomenon where there’s a morning rise in blood sugar. Often it occurs as posthypoglycemic hyperglycaemia and follows nocturnal hypoglycaemia. The mechanism is the production of counter-regulatory hormones like glucagon, cortisol and adrenaline, which increase glucose. She can be managed by reducing her evening insulin dosage and increasing complex carbohydrates for supper (evening meal).Type I diabetes mellitus:It is a chronic illness that is characterised by the inability to produce insulin. It is caused by autoimmune destruction of the beta cells in the pancreas and often presents with ketoacidosis.The patient can present with symptoms suggestive of polyuria, polydipsia, and weight loss. There can be periods of islet cell regeneration in these patients, which leads to a ‘honeymoon period’ of remission.Symptoms occur when there is < 20% of islet cell activity left.Insulin therapy is required in almost all children with type 1 diabetes.Most children require multiple insulin injections throughout the day via subcutaneous insulin pumps.Target HbA1c in these patients is 48 mmol/mol according to the updated NICE guidelines.

Puberty is a period of transitioning into adulthood by developing full reproductive potential by undergoing drastic physiological and psychological changes. For boys, it occurs around 9-16 years of age typically. The process of pubertal changes is usually divided into stages called tanner’s stages. The physiologic changes of puberty are initiated by the release of gonadotropin-releasing hormones from the hypothalamus, which then interact with numerous endogenous and environmental stimuli to bring about the physical pubertal features. Tanner stage 2 in boys is characterized by the thinning and reddening of the scrotal skin.The growth spurt of around 9cm per year is expected in boys, at the peak velocity.Testicular enlargement of >3cm commences puberty.Pubarche, in the absence of other secondary sexual characteristics, is pathological.Adrenarche is the increase in the secretion of adrenal androgens, occurring prior to increased gonadotropin release.

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.

Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally earlier age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males. The onset of normal puberty is triggered by gonadotropic-releasing hormones from the hypothalamus.In most of the familial cases, the condition is transmitted by affected father. In boys, this makes up about 5% of the cases.Full adult height potential is not achieved in patients of precious puberty, although there is an advanced bone maturation.

Puberty is the general term for the transition from sexual immaturity to sexual maturity. There are two main physiological events in puberty:- Gonadarche is the activation of the gonads by the pituitary hormones follicle-stimulating hormone (FSH) and luteinizing hormone (LH).- Adrenarche is the increase in production of androgens by the adrenal cortex. It is the term for the maturational increase in adrenal androgen production that normally becomes biochemically apparent at approximately six years of age in both girls and boysA number of other terms describe specific components of puberty:- Thelarche is the appearance of breast tissue, which is primarily due to the action of oestradiol from the ovaries. – Menarche is the time of first menstrual bleed. – Pubarche is the appearance of pubic hair, which is primarily due to the effects of androgens from the adrenal gland. The term is also applied to first appearance of axillary hair, apocrine body odour, and acne.The earliest detectable secondary sexual characteristic on physical examination in most girls is breast/areolar development (thelarche). Ovarian enlargement and growth acceleration typically precede breast development but are not apparent on a single physical examination. Oestrogen stimulation of the vaginal mucosa causes a physiologic leukorrhea, which is a thin, white, non-foul-smelling vaginal discharge that typically begins 6 to 12 months before menarche. Menarche occurs, on average, 2 to 2.5 years after the onset of puberty

Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.

Hormones can be secreted in a number of different ways, thus plasma levels of each may vary throughout the day. Many of these exhibit intermittent secretion related to sleep (growth hormone, and prolactin), while others are released based on circadian rhythms (cortisol). Some are released in a pulsatile fashion throughout the day such as FSH, LH, Thyroxine, while others are stress related like cortisol.

Lypohypertrophy is the most common skin-related complication of insulin injection.

Among the given options, pituitary adenoma is an acquired anterior pituitary disorder which represent between 10 and 25% of all intracranial neoplasms.Other options:- Agenesis of the corpus callosum is characterised by the partial or complete absence of the corpus callosum. This condition is associated with pituitary hormone deficiencies.- Congenital disorders such as hydrocephalus or arachnoid cysts may be a cause of precocious puberty.- Pituitary hypoplasia and septo-optic dysplasia are congenital disorders of the pituitary gland.

Most healthy infants and children grow predictably, following a typical pattern of progression in weight, length, and head circumference. Normal human growth is pulsatile| periods of rapid growth (growth spurts) are separated by periods of no measurable growth Growth hormone levels and responsiveness’ develop in late infancy, increase during childhood and peak during puberty.Typical milestones — General guidelines regarding length or height gain during infancy and childhood include the following:- The average length at birth for a term infant is 20 inches (50 cm)- Infants grow 10 inches (25 cm) during the first year of life- Toddlers grow 4 inches (10 cm) between 12 and 24 months, 3 inches (7.5 cm) between 24 and 36 months, and 3 inches (7.5 cm) between 36 and 48 months- Children reach one-half of their adult height by 24 to 30 months- Children grow 2 inches per year (5 cm per year) between age four years and puberty- There is a normal deceleration of height velocity before the pubertal growth spurt.Growth continues past pubertal growth spurt as there is increase in spinal length.

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of near-sightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

Classic Kallmann syndrome (KS) is due to isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. The hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. By definition, either anosmia or severe hyposmia is present in patients with Kallmann syndrome.

Anorexia nervosa is an eating disorder defined by restriction of energy intake relative to requirements, leading to a significantly low body weight. Patients will have an intense fear of gaining weight and distorted body image with the inability to recognize the seriousness of their significantly low body weight. Athletes in sports such as ballet, long-distance running, and martial arts are pressured to maintain lean body weights to outperform the competition.

Somogyi effect presents with night-time hypoglycaemia followed by early-morning hyperglycaemia, hence the glycosuria.