Endocrine passmedicine (2)

Terms in this set (71)

Cryptorchidism is more suggestive of Kallman's than Klinefelter's syndrome

Kallman's syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
It is usually inherited as an X-linked recessive trait.

Features
delayed puberty
hypogonadism,
***cryptorchidism (Cryptorchidism is more suggestive of Kallman's than Klinefelter's syndrome)
Cryptorchidism is the absence of one or both testes from the scrotum (undescended testis).
anosmia (*Lack sense of smell) present in 75%
Cleft lip/palate and visual/hearing maybe seen
sex hormone levels are low
patients are typically of normal or above average height
LH, FSH levels are inappropriately low/normal
Lack of development of secondary sexual characteristics
Primary amenorrhoea.
*no mental retardation

Diagnosis
Diagnostic test
Fluorescent in situ hybridisation (FISH) is currently the best means of a genetic diagnosis
Absent olfactory bulbs are present on 75% of MRI scans in these patients.

Treatment
For a male who begin a relationship with a woman
Pulsed (NOT Continuous) GnRH treatment is needed to restore LH and FSH release.
Once his family is complete, switching to testosterone therapy may be more convenient for him.
Although Testosterone supplementation will restores secondary sexual characteristics, it doesn't restore fertility and is therefore not appropriate here.
FSH can be used to induce fertility, but it is less effective than pulsed GnRH therapy.
LH can be used in conjunction with FSH to induce fertility in women with Kallmann syndrome.
The diagnostic test for acromegaly is an oral glucose tolerance with growth hormone measurements

Acromegaly (excess growth hormone ''GH'')
Approximately 30% of growth hormone (GH) secreting pituitary tumours is associated with mutation of the *Gs protein alpha subunit

Causes
Pituitary adenoma (95%)
ectopic GHRH or GH production by tumours e.g. pancreatic

mechanism:
GH secreting tumours ➡️ mutation in the alpha sub-unit of the stimulatory guanosine triphosphate (GTP) binding protein➡️persistent elevation of cyclic adenosine monophosphate (cAMP) ➡️production of excess growth hormone.

Features
coarse facial appearance, spade-like hands, increase in shoe size
large tongue, prognathism, interdental spaces
excessive sweating and oily skin
**Pseudogout is a recognised association of acromegaly; gout is not.
Hypertension, heart failure and *cardiomyopathy may occur.
Goitre is seen in 20%, along with other soft tissue swelling.
*Phosphate levels are elevated but calcium levels are not significantly increased.
features of pituitary tumour: hypopituitarism, headaches, bitemporal hemianopia
raised prolactin in 1/3 of cases galactorrhoea

6% of patients have MEN-1
***risk for colon cancer ( regular colonoscopy screening, starting at the age of 40 years)

Management
Trans-sphenoidal surgery is first-line treatment for acromegaly in the majority of patients
Somatostatin analogue (eg: octreotide)
first line medical therapy.
Long acting somatostatin analogue, Somatuline LA (Mode of action ↓↓meal-time related superior mesenteric artery blood flow)
Dopamine agonists (eg: bromocriptine)
Pegvisomant the major use of pegvisomant is in patients who have an inadequate response to surgery or radiotherapy (is a third-line treatment when surgery, radiotherapy and somatostatin analogues are not effective.)

most likely cause of death if treatment is unsuccessful?
Left ventricular failure
;