This document describes four case scenarios involving patients presenting with various endocrine-related symptoms. The first case involves a 17-year-old boy with gynecomastia and absence of secondary sex characteristics. The second case involves a 16-year-old girl with delayed menarche and short stature. The third case involves a 30-year-old woman with spontaneous milk discharge and infertility. The fourth case involves a 32-year-old man with headaches, vision issues, fatigue, and erectile dysfunction. The document then provides background information on conditions like hyperprolactinemia, prolactinomas, Cushing's syndrome, MEN type 1 and 2 syndromes, and their typical clinical presentations, evaluations
3. Case Scenario: 1
A 17 years old boy seeks medical advice for not growing
any beard or moustaches. He has isolated himself
from class fellows as they make fun of him for having
feminine figure and heavy breasts.
On examination: He has smooth skin, Gynaecomastia,
absent secondary sex characters and small testis.
4. Case Scenario: 2
A 16 year old girl is brought to OPD for advice
regarding delayed menarche, short stature and
depressed mood. She also C/O aches and pains all over
body.
On examination:
Height 4ft 9 inches
Weight 41 Kg
Pale and Smooth skin.
BP 110/70.
5. Case Scenario: 3
A 30 years old school teacher married for 6 years C/O
unexplained spontaneous expression of milky
discharge from her breasts which is quite
embarrassing for her.
On inquiry she reports oligomennorhea and has not
yet conceived despite regular treatment for herself &
her husband from a famous homeopathic clinic for
infertility.
She also has dyspareunia, and low back pain and was
told to have PID by a local doctor in community and
has used Flagyl and Ciprofloxacin.
6. Case scenario: 4
A 32-year-old man visits OPD with C/O headache,
blurring of vision and diplopia for six weeks.
For past six months he feels easily fatigued and
attributes it to stress at workplace.
He also has loss of libido and erectile dysfunction.
He is married for 8 years but couple has no baby yet.
Wife says he has put on weight over past 6 months.
7. Physical examination:
Weight 82 Kg
Normal predicted height
BP 140/90
Mild gynecomastia
Deficient virilization
Testicular atrophy.
8.
9. Do you Know ?
Which is the most common hormone secreting tumor
of the pituitary gland?
11. Physiology
Prolactin (PRL), a polypeptide hormone consisting of
199 amino acids, is regulated by hypothalamic factors:
Prolactin-releasing factors (PRFs)
TRH, VIP, Peptide Histidine Methionine are major PRFs
Prolactin-inhibitory factors (PIFs).
Dopamine (DA) is the principal PIF
A balance between the PRFs and PIFs keeps the serum PRL level within a
physiologic range.
12. Prolactin
Its primary function is to enhance breast development
in pregnancy and induce lactation.
It binds to specific receptors in gonads, lymphoid cells
and liver.
Secretion is pulsatile; it increases with sleep, stress,
pregnancy, and chest wall stimulation or trauma.
Blood sample should be drawn after fasting.
Normal Values: Less than 25-30 ng/mL
13.
14. Regulation of prolactin secretion
Predominant inhibitory signalStimulatory signal
Renal clearance
18. A Prolactinoma is classified as:
Microprolactinoma (< 10 mm diameter)
OR
Macroprolactinoma (>10 mm diameter).
19. Do You Know Why?
60% of the Men present with macroprolactinomas.
90% of the females present with microprolactinomas.
20. It’s a fact…
Men often present much later for clinical evaluation of
hypogonadism
than
Women for clinical evaluation of amenorrhea.
21.
22. Clinical manifestations:
Hormonal Effect :
Women : infertility, oligomenorrhea, amenorrhea or
rarely galactorrhea .
Men : decreased libido, impotence, infertility,
gynecomastia, very rarely galactorrhea .
23. Clinical presentation of hyperprolactinemia
Premenopausal women
31 < PRL < 50 g/L 51 < PRL < 75 g/L 100 g/L < PRL
Hypogonadism
Galactorrhea
Amenorrhea
Oligomenorrhea Short luteal phase
Decreased libido
Infertility
Increased body weight – associated with prolactin-
secreting tumor
Osteopenia – patients with associated hypogonadism
Degree of bone loss – related to duration and severity
of hypogonadism
25. Female
Galactorrhea
Amenorrhea
Oligomenorrhea
Infertility
History of fracture
Male
Low libido
Impotence
Infertility
Gynecomastia
Galactorrhea
History of fracture or osteoporosis
Persistent gonadal dysfunction resulting in estrogen or
testosterone deficiency from prolonged
hyperprolactinemia if left untreated can result in
premature osteoporosis in patients of either sex.
26. Diagnosis and testing:
Based on clinical evaluation, biochemical testing and
imaging
History…drugs, amenorrhoea, galactorrhoea
Physical examination….visual field defects, breast
discharge.
Laboratory investigations..pregnancy test, TSH, free
T4, creatinine, anterior pituitary function assay
MRI of the pituitary…pituitary tumour
27. Presence of Pituitary mass on MRI:
Serum prolactin level..normal range 5-25ng/ml.
Serum prolactin values above 200 ng/mL usually
indicate the presence of a lactotroph adenoma.
Macroprolactinemia….no clinical features of
hyperprolactinemia but apparently elevated prolactin
level, specific serum immunoassay required.
28. Imaging : MRI Of Head
* Should be performed in a patient with any degree of
hyperprolactinemia to look for a mass lesion in the
hypothalamic-pituitary region .
29.
30. Treatment:
Indications for treatment are….
1)Neurological symptoms
2)Hypogonadism and other symptoms
Corner stone of treatment of prolactinomas…. medical
therapy.
31. Objectives of treatment of hyperprolactinemia
Restoration and maintenance of normal gonadal
function
Restoration of normal fertility
Prevention of osteoporosis
If a pituitary tumor is present:
Correction of visual or neurological abnormalities
Reduction or removal of tumor mass
Preservation of normal pituitary function
Prevention of progression of pituitary or hypothalamic
disease
32. Medical management:
Dopamine agonists decrease prolactin secretion and
reduce the size of the lactotroph adenoma in more
than 90 % of patients.
Decrease symptoms within days .
Decrease in serum prolactin within 2-3 weeks .
Decrease in size within 6 weeks ... ( 6 month ) .
35. ORAL CONTRACEPTIVE
Estrogen- progestin : can be considered as therapy in
women with symptomatic microprolactinomas IF :
1) They can’t tolerate DA
2) Don’t respond to DA
3) Don’t want to become pregnant.
37. Normal & Symptomatic Micro & Symptomatic
Dopamine agonist therapy
Follow up
Normal
Prolactin level
Reduced prolactin level
After 6 months therapy
Prolactin level still elevated
After 6 months therapy*
Asymptomatic
Symptomatic
Consider pituitary surgery
Measure prolactin level
Every 4 – 6 months
38. Tapering Dopamine Agonist
Consider tapering after 2 years in those:
who no longer have elevated serum PRL
who have no visible tumor remnant on MRI
May be possible to discontinue therapy when
menopause occur
39. Management of Prolactinomas during
Pregnancy:
Stop dopamine receptor agonists
Follow patient symptomatically every 3 months
If headache or visual complaints…repeat MRI (non-
contrast) and visual field tests
Reinstitute bromocriptine if evidence of tumour
enlargement
Monitoring prolactin levels during pregnancy…not
indicated
40.
41. Case scenario:
A 34 yr old female who had a prolonged history of
epigastric pain radiating to her back, underwent
abdominal surgery after her gastrin level was found
markedly elevated but her symptoms recurred and so
did serum gastrin levels and she was put on PPI.
Two years later she presented with headache and
lethargy, amenorrhea , loss of appetite but no weight
loss.
Her father had neck surgery 20yrs ago to treat kidney
stones. Her maternal aunt had CA stomach.
42. Physical Examination
Pale, scanty axillary and pubic hairs, dry skin,
Pulse..62/min
BP…105/65mm Hg
Fundoscopy….revealed slightly pale discs and bi-temporal
hemianopia on visual field testing.
Neurological examination….Normal
Normal CBC with sodium level 129mmol/L, LOW TSH &
T4…prolactin 4500mu/L
Skull xray …showed enlargement of pituitary fossa
DIAGNOSIS?????
44. MEN I: Wermer Syndrome
AD familial syndrome characterized by tumors of
Parathyroid glands( 95%),
Endocrine gastroenteropancreatic {GEP} tract (30-80%)
Anterior pituitary (15-80 % cases)
And skin.
Most common endocrine tumours are parthyroid tumours.
Others include gastrinomas, insulinomas, prolactinomas
and carcinoid tumours.
Strong family history.
45.
46. Case scenario:
A 32 years old female has headache and general
malaise for 4 months. Over the past 3 weeks, she has
developed nausea and epigastric pain after meals. She
also gives H/O off and diarrhea for 2 years.
She also describes frequent episodes of restlessness
,palpitations, sweating and flushing but attributes
these symptoms to fear of illness.
47. Examination
Anxious looking, with irregular swelling in front of
neck which moves with deglutition.
Heart rate 120/min regular
B.P…180/105 mmHg
Systemic Examination: Unremarkable.
48. HB…17g/dl
Calcium…2.8mmol/L
Phosphate…0.6mmol/L,
TSH 3mu/L
Normal RFT’s n serum sodium and potassium
Normal blood glucose
DIAGNOSIS??????
49. MEN II:
Most commonly involve
Adrenal gland (50%),
Parathyroid gland (20%)
Thyroid gland (almost 100%)
Further divided into MEN IIa and MEN IIb