DISCUSSION ON ENDOCRINE DISORDERS AND THEIR INFLUENCE ON BONES. MAINLY THYROID AND PITUITARY PATHOLOGIES

1. ENDOCRINE BONE
DISEASES
DR. ARIF KHAN S

2. INTRODUCTION
• Thyroid disorders
• Growth hormone disorders
• Gonadal disorders
• Hypercortisolism
• Other disorders ;

3. HYPOTHYROIDISM
• deficiency of the thyroid hormones thyroxine and triiodothyronine,
during fetal life (cretinism)
early childhood (juvenile myxedema or juvenile hypothyroidism)
Adultdhood (myxoedema, hypothyroidism)

4. DISEASE ETIOLOGY
• primary, caused by disease of the thyroid gland,
• secondary, caused by lack of thyroid-stimulating hormone (TSH) produced by the
pituitary gland
• Due to the popularity of congenital hypothyroidism screening programmes, the untreated
congenital hypothyroid patient is a rarity.
• juvenile hypothyroidism, where thyroid hormone becomes inadequate in childhood or
adolescence, after the brain development is complete, is more common.
• Early autoimmune destruction of the thyroid gland is the commonest cause while
cases due to iodine deficiency are also being reported

5. • The major target sites are the growth plates and epiphyses, best-demonstrated in the
hands and the hips
• Effects of thyroid hormone levels on a growing skeleton, after formation of epiphysis is less
• The key symptoms and signs include lethargy, constipation, an enlarged tongue, abdominal
distention, and dry skin
• Usg has an important role in diagnosing fetal hypothyroidism
Can be demonstrated as absent or small non ossified distal femoral or proximal tibial epiphyses
.
Some cases with epiphyseal dysegnesis.

6. • fundamental radiographic feature in both forms of hypothyroidism is delayed skeletal
maturation with stunting of bone growth leading to dwarfism
• the appearance of the secondary ossification centers is greatly delayed
• Epiphyses ossify from numerous ossification centers, thereby acquiring a fragmented
appearance and on occasion appearing abnormally dense
• Underpneumatization of the sinuses and mastoids are also typical radiographic findings
associated with hypothyroidism

13. • Complications
One of the common complications
of hypothyroidism is the
development of slipped femoral
capital epiphysis.

14. HYPERTHYROIDISM
• in 1891 when von Recklinghausen described the "worm eaten" appearance of the long
bone
• With the introduction of antithyroid drugs and radioiodine in the 1940s, clinically
apparent hyperthyroid bone disease became less common
• that bone loss is common in patients with overt hyperthyroidism and to a lesser extent
in those with subclinical hyperthyroidism.
• Most evident bone finding is osteoporosis but clinically less apparent unless in advanced
stages

15. THYROID ASSOSCIATED ORBITOPATHY
• Most common cause of proptosis in adults, frequently assosciated with grave’s disease
• thyroid associated orbitopathy is characterised by enlargement of the extraocular muscles
(EOMs) as well as increase in the orbital fat volume
• antibodies to thyroid stimulating hormone (TSH) appear to cross react with antigens in the
orbit resulting in infiltration by activated T lymphocytes, with subsequent release of
inflammatory mediators.
• The muscles are infiltrated with inflammatory cells (lymphocytes, macrophages, plasma
cells and eosinophils), and increased mucopolysccaride deposition
• long standing cases increased collagen deposition leads to fibrosis
• increase in orbital fat volume is as a result of venous congestion (compression of superior
ophthalmic vein by enlarged muscles) and / or intrinsic inflammation.

17. ACROMEGALY (HYPERPITUITARISM)
• Acromegaly is the result of excessive growth
hormone (GH) production, most commonly from
an adenoma of the pituitary.
• commonly affects adults in middle age and can
result in severe disfigurement, serious
complicating conditions, and premature death.

18. The most common target sites of acromegaly
JAWS
FRONTAL BONE SINUSES
SAMLL BONES OF HAND AND FEET
SPINE

19. CLINICAL PRESENTATION
• It has both an insidious onset and slow progression and,
• diagnosed when the external features, especially of the face, become noticeable.
• soft tissue swelling visibly resulting in enlargement of the hands, feet, nose, lips and ears, and a
general thickening of the skin
• generalised expansion of the skull at the fontanelle
• pronounced brow protrusion, often with ocular distension
• pronounced prognathism with attendant macroglossia and gaping teeth
• hypertrichosis, hyperpigmentation, and hyperhidrosis may occur in these patients

20. PATHOLOGY
• Over 90% of cases are the result of a pituitary macroadenoma. Expansion into the sella
turcica may result in compression of surrounding structures, most importantly, the optic
chiasma. The majority of pituitary tumours are incidental and do not have a genetic
component.
• The remaining 10% of cases are the result of other tumours of the pancreas, lungs or
adrenal glands that release GH
• A very small number of cases result from the excessive use of exogenous GH in
atheletes.
• Serology shows: elevated levels of
1. growth hormone
2. IGF-1

21. Skull
Calvarial thickening, enlarged sinuses
and an enlarged sella turcica.
Prognathic jaw

22. Hands
• Terminal phalangeal tufts become hypertrophied and
have a "spade appearance" which is called spade
phalanx sign.
• The heads of the metacarpals are enlarged, and
irregular bony thickening along the margins, simulating
osteophytes, may be seen
• Joint spaces may be minimally enlarged. Premature
osteoarthritis can set in the advanced stages of
acromegaly.

24. • the sesamoid index: determined by the height and width of this ossicle measured in
millimetres, if greater than 30 in women and greater than 40 in men suggest
acromegaly

26. • Feet
Heel pad thickness may be increased (more
than 25 mm)

27. • Spine
Lateral radiograph demonstrates posterior vertebral
scalloping, a phenomenon apparently caused by bone
resorption.

28. HYPOPITUITARISM
• Hypopituitarism refers to a condition in which there is partial or complete insufficiency of
pituitary hormone secretion.
• The most common pituitary hormone deficiency, growth hormone deficiency (GHD), is the
main focus of this section.
• Adult and pediatric disease spectrum completely differs
In pediatric patients can be divided into two categories: congenital and acquired
In adults, most patients have pituitary disease caused by a pituitary tumor, surgery, or
radiation therapy for the tumor.
Other causes include trauma and infiltrative diseases

29. • Congenital causes
central nervous system tumors (e.g., craniopharyngioma, metastatic carcinoma, pituitary adenoma,
pituitary carcinoma, meningioma),
central nervous system malformations,
pituitary hypoplasia or aplasia,
empty sella syndrome
• Acquired causes
• cranial irradiation
• infection (e.g., tuberculosis, fungal, abscess),
• infiltrative diseases (e.g., sarcoidosis, hemochromatosis and leukemia)
• trauma, and hypoxic insult.

30. PATHOLOGY
• Any disease process affecting the pituitary gland
or infundibular stalk can affect the pituitary’s
secretion of growth hormones along with other
pituitary hormones.
• Trauma causing transection of the infundibular
stalk will prevent GH-releasing hormone and
other neuropeptide-releasing hormones
produced in the hypothalamus from reaching the
pituitary gland.
• Cranial irradiation can lead to
panhypopituitarism.

31. CLINICAL PRESENTATION

32. • The radiographic manifestation for hypopituitarism is nonspecific.
• The skeletal findings in children include delayed skeletal growth and maturation, delayed
appearance and growth of ossification centers as well as delayed fusion and
disappearance of the ossification center, delayed dental eruptions, and osteopenia.
• The skeletal findings in adults are nonspecific and mainly consist of osteoporosis with
increased incidence of fracture.

33. DWARFISM
• dwarfism is defined as an adult height of less than 4 feet 10 inches
• Proportionate and disproportionate.
• Growth hormone deficiency typically leads to proportionate dwarfism.
• Children affected will show slow gain in height and will be smaller than normal children
of the same age group.

34. HYPOGONADISM
• Primary : deficient production of sex hormones from gonada.
• Secondary: low production of gonadotropins ( LH, FSH) from pituitary or GnRH from
hypothalamus.
Primary when present with normal genetic karyotype its referred to as Eunuchoidism
In older women , deficiency seen assosciated withmenopause.
In younger women its seen associated with TURNER’s SYNDROME

35. RADIOLOGICAL FINDINGS
• Generalized decrease in bone density.
• Delay in skeletal maturation which manifests as delayed closure of epiphyses
Results in long extremities with short trunk.

36. TURNER’S SYNDROME
• the most common of sex chromosome abnormalities in females.
• Karyotype 44-XO
• estimated at ≈ 1 : 2000 - 5000 of live birth.
• Usually presents as primary Amenorrhoea.
• Serology may show serum alpha feto protein (AFP) : decreased
beta HCG :
elevated if hydrops present
decreased if no hydrops
serum inhibin :
elevated if hydrops present
absent if hydrops absent

37. INTRA UTERINE ULTRASOUND FINDINGS
• • cystic hygroma : may appear septated : one of
the most typical features of Turner syndrome
• •increased nuchal thickness
• •increased nuchal translucency
• • coarctation of the aorta : 15 - 20%
• •bicuspid aortic valve
• • horseshoe kidney / pelvic kidney
• •mild IUGR
• •features related to complicating hydrops fetalis
• •short fetal limbs

38. POST PARTUM TO ADULTHOOD FINDINGS
• Us g show streaky ovary and or Uterus.

39. • MSK FINDINGS :
• •scoliosis
• •short 4th metacarpal : positive metacarpal sign
• •narrowing scapho-lunate angle : positive carpal
sign
• •abnormal medial femoral condyle
• •decreased carpal angle : Madelung deformity
• •short stature
• •webbed neck
• •valgus deformity of elbow : increased carrying
angle - cubitus valgus

42. HYPERGONADISM
• Overproduction of sex hormones by testes or ovaries.
• Pathology usually involves high ACTH secretion
Deficiency in cortisol  high ACTH  indirect excessive of sex steroids (adrenals)
Or
CNS lesion Increase GnRH  hypergonadism
Both are central.

43. • Skeletal manifestations
• Precocious growth and maturation
• Epiphyseal ossification centers appear nearly.
• Long bones grow rapidly and the growth and growth plates close early.
• Short stature* (tall childbecoming short adult )
• Morphology of skeleton is otherwise normal.

44. HYPERCORTISOLISM
• Exposure to excessive corticosteroids (gluco corticoids)
• Causes :
Central: increased ACTH
Peripheral : increased corticosteroid production due to Adrenal tumors ( adenomas,
carcinoma) , Ectopic ACTH producing tumors (bronchial carcinoma)
Iatrogenic: treatment with corticosteroids
aka CUSHING’s SYNDROME.

45. • Effects of Glucocorticoids in bones:
• Inhibition of new bone formation
• Stimulation of bone resorption by osteoclast
• Decrease intestinal absorption of calcium
• Increase renal excretion of calcium
• Decrease synthesis of collagen
Results in osteoporosis, osteonecrosisand muscle wastng.
Big but weak
Hypercortisolism during skeletal immaturity suppresses growth
Results in short child with osteoporosis.
Osteonecrosis at epiphyses leads to early degenerative Osteoarthropathy

46. • Radiological features:
1. Osteoporosis is generalized ; particularly involves spine ,
pelvis and ribs.
2. Biconcave fish like vertebral bodies; central EP depressions
with accentuationof primary trabeculae
3. Marginal condensation at the Eps
4. Exuberant callus may be seen in long bones ribs
• Although vertebral sclerosis with osteoporosis is typical ,
insdistinguishable from other causes of osteoportic spine like
Hyperthyroidism
Hyperparathyroidism‘
hypogonadism

48. FAMILIAL IDIOPATHIC HYPERPHOSPHATASIA
• rare autosomal-recessive disorder
• affecting young children, generally within their first 18 months
• associated with progressive bone deformities
• often referred to as “juvenile Paget disease,”
• SYNONYMS: familial osteoectasia ;hyperostosis corticalis deformans juvenilis

49. • Clinically, it is characterized by
painful bowing of the limbs,
muscular weakness, abnormal gait,
pathologic fractures, spinal deformities,
loss of vision and hearing,
• SEROLOGY : elevation of serum alkaline phosphatase, increase in the amount of
leucine aminopeptidase.

50. marked thickening of the cortex of
the humerus and coarsening of the
bony trabeculae, resembling pagetic
bone
hands shows sclerotic changes in
the bones and a marked narrowing
of the medullary cavity of the
metacarpals and phalanges

51. bowing of the long bones of
the lower extremity, a striking
feature of familial idiopathic
hyperphosphatasia

52. thickening of the tables and a
“cotton ball” appearance of the
cranial vault, similar to that of
Paget disease

53. the coarse trabecular pattern and cortical
thickening typical of this condition..

54. GAUCHER DISEASE
• Ffamilial inherited disease of unknown cause.
• Transmitted as an autosomal-recessive trait.
• abnormal deposition of cerebrosides (glycolipids) in the reticuloendothelial cells of the
spleen, liver, and bone marrow(accumulates within the macrophages).
• The disease results from numerous mutations at the genetic locus encoding the enzyme
glucocerebrosidase that lead to the defective activity of lysosomal hydrolase.
• The presenting clinical features of patients depend on the type of disease they have
• The adult form of the disorder (type I) is the most common and typically presents with
abdominal distention secondary to splenomegaly

55. • Three types

56. • There is a diffuse osteoporosis that is
frequently associated with medullary
expansion. In the ends of the long
bones, this phenomenon is referred
to as the “Erlenmeyer flask”
deformity .
• d/ds
• Niemann-Pick disease
• Fibrous dysplasia
• Sickle-cell anemia
• Thalassemia
• Ollier disease (enchondromatosis)
• Pycnodysostosis
• Lead poisoning

57. • Localized bone destruction assuming a
honeycomb appearance is also typically seen
;
• gross osteolytic destruction is usually limited
to the shafts of the long bones.
• Moreover, sclerotic changes are common,
occurring secondary to a repair process or
bone infarctions

58. • Medullary bone infarction
and a periosteal reaction
may lead to a bone-
within-bone
phenomenon, which may
resemble osteomyelitis

59. • Osteonecrosis especially of the
femoral heads Is a common
complication of GAUCHER’S

60. SPOTTERS

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