Endo check Flashcards

(36 cards)

1
Q

What are the pre-pubertal signs of male androgen deficiency

A

Micropenis

Small testes

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2
Q

What are the peri-pubertal signs of male androgen deficiency?

A

Late/incomplete sexual and somatic maturation.

  1. Small testes
  2. Failure of penile enlargement/testis skin becoming pigmented and thick
  3. Failure of growth of larynx.
  4. Poor muscle development.
  5. Poor facial, body, pubic hair
  6. Gynaecomastia
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3
Q

What are post-pubertal signs of androgen deficiency?

A
  1. Regression of some features of virilisation.
  2. Psych - Lowered mood,

Poor concentration.

  1. Constitutional/hormonal

Low energy

Hot flushes

Gynaecomastia

  1. Sexual dysfunction

Lowered libido

Low semen volume

Reduced body/facial/pubic hair

Erectile dysfunction (uncommonly)

  1. Musculoskeletal

Reduced muscle strength

Osteoporosis/ fractures

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4
Q

DDx for a small testis?

A
  1. Genetic eg Klinefelters syndrome.
  2. Damage to testis - vascular impairment, mumps orchitis, chemotherapy
  3. Suppression of hypothalamo pituitary axis - adenoma, anabolic steroids, GNRH deficiency
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5
Q

Features of Klinefelters disoder?

A

Extra X chromosome

XXY

Still has puberty and penile,scrotal growth

Small firm testes

Azospermia

Lack of male escutcheon (pubic triangle)

Reduced body and facial hair

changes in fat distribution

Usually evident by adolescence

MOST COMMON PRESENTATION is primary inferility due to Azospermia

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6
Q
A
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7
Q

How wouldb you distinguish between primary and secondary hypogonadism in men?

A

FSH and LH and total testosterone

IF FSH AND LH are both low and testost is low - then hypothalomo=pitutary axis supression is likely

If FSH and LH are high, with a low to normal testost - then primary hypogonadism

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8
Q
A
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9
Q

When would you use free testost vs total test

A

free is used if SHBG is low - androgen abuse, obesity, DM

or SHBG is very high - antiepileptics, liver disease, thyrotoxicosis

For assessing androgen deficiency - serum total testosterone (fasting morning sample) is best

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10
Q

What are the requirements for semen collection?

A
  1. Patients must be provided with a laboratory grade specimen container which is fit for purpose.

2 Written specimen collection advice must be made available to requesting practitioners and patients.

3 Specimen collection advice must specify the optimal collection procedures and instructions for storage, transport and delivery of specimens, including that: (a) the patient should abstain from ejaculation for a period of no less than 2 days and no more than 7 days prior to collection

(b) masturbation without the use of a lubricant is the preferred method of specimen collection
(c) where a patient is unable to collect a sample by masturbation, a condom may be used to facilitate semen collection during intercourse. The patient must be advised how to obtain a condom which is non-toxic to spermatozoa (no spermicide, no lubricant, non-latex) for this purpose
(d) the specimen should be maintained at a temperature between 20°C and 37°C during transportation to the laboratory
(e) the specimen should be delivered to the laboratory to allow commencement of analysis within one hour of collection.

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11
Q

What are the reproductive options available for a man with primary infertility secondary to klinefelters syndrome?

A

Sperm recovery from testicular biopsy for use in intracytoplasmic sperm injection (ICSI). Using an operating microscope, a selected sperm tubule segment can be identified, removed and processed in the lab to provide sperm in approximately 40% of cases.[15] These sperm appear to arise from normal 46, XY stem cells, so that offspring usually have a normal karyotype. The possibility of a patient with Klinefelter syndrome fathering his own genetic children represents a huge paradigm in management.

Alternative strategies such as donor insemination, adoption or living a life without children.

Sperm recovery must be done prior to testosterone replacement

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12
Q

What are the long term associations of Klinefelters

A

Infertility

Increased risk of T2DM

Osteoporosis

Thyroid dysfunction

(Check TFT, Dexa and Fasting GLucose in all)

Lifestyle mods including 5-10% weight loss

diet and exercise as per guidelines

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13
Q

Complications of Klinefelters?

A

REPRODUCTIVE:

Germ cell failure: small firm testes <4 mL, infertility

Leydig cell failure: failure to progress through puberty, gynaecomastia, eunuchoidal proportions, diminished body hair (facial, axillary, pubic), decreased skeletal bone mass (osteoporosis)

NON REPRODUCTIVE:

Endocrine: Impaired glucose tolerance, diabetes (type 1 and 2), hypothyroidism

Cardiovascular: mitral valve prolapse, ischemic heart disease, venous thrombo-embolism

Auto-immune: systemic lupus erythematosis

Tumours: mediastinal germ cell tumour, breast cancer

Cognitive and behavioural: learning difficulties in reading/spelling, deficits in language processing

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14
Q

When would you insitute TRT in klinefelters? How?

A

Lifelong TRT will need to be considered after addressing the fertility issues. Referral to an endocrinologist is helpful for developing a treatment plan, and will provide a backstop for management. Accessing Pharmaceutical Benefits Scheme (PBS) support for lifelong TRT under the criterion of ‘androgen deficiency due to primary testicular disease’ also requires review by a specialist. TRT can be readily administered by GPs

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15
Q

What elements should be considered when deciding upon cause of hypoglycaemia?

A
  1. A full review of his Oral intake,
  2. Activity levels,
  3. blood glucose readings and
  4. medication use

will be required to assess the cause of his hypoglycaemia.

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16
Q

Insulin treated Diabetes and a private license?

A

Conditional license ONLY

Needs 2 yearly review by treating doctor

  1. No recent Hypos
  2. On appropriate treatment regimen
  3. Has awareness/warning of hypos
  4. No end organ effects that may affect driving

if any of the above - refer to endo

17
Q

Insulin treated DM and a commercial license

A

Conditional license ONLY

Needs yearly review by treating ENDOCRINOLOGIST

  1. No recent Hypos
  2. On appropriate treatment regimen
  3. Has awareness/warning of hypos
  4. No end organ effects that may affect driving
18
Q

PBS criteria for incretins?

A

Pharmaceutical Benefits Scheme (PBS) criteria only allow twice-daily exenatide (Byetta) as an authority drug for use with insulin.

The weekly preparations of exenatide and dulaglutide can be prescribed as a weekly subcutaneous injection for those on metformin and/or a sulphonylurea or both

19
Q

Can fenofibrate replace a statin after MI?

A

It helps with proliferative diabetic retinopathy.

But it can’t replace a statin.

It can be added without adverse effect.

20
Q

Bariatric surgery and DM?

A

BMI >40 kg/m2

BMI >35 kg/m2 and poor glycaemic control despite optimal pharmacological and lifestyle management

BMI >30 kg/m2 and poor glycaemic control with elevated cardiovascular risk.[34]

In a randomised trial of bariatric surgery versus best medical therapy in type 2 diabetes, patients who underwent surgery had better blood glucose control, often returning to ‘non-diabetic’ levels, and required fewer medicines five years after surgery.[35] The trial was not powered to demonstrate benefits in deaths or major cardiovascular morbidity. The non-randomised Swedish Obesity Study, which included people with and without diabetes, did suggest a mortality benefit after approximately six years.[36]

21
Q

When is central precocious puberty defined?

A

Activation of HPG axis less than 8 in girls

and less than 9 in boys

22
Q

What order do changes occur in puberty in boys and girls?

A

Girls - first breast development (Around 8-13), growth spurt, menarche

Boys - Testis growth (9-14), then pubic hair, penile size increas and then growth spurt

23
Q

What is pubic hair development in girls related to?

A

ADRENARCHE

Adrenal glands producing androgens

24
Q

How do you assess puberty?

A

Tanner staging - breast and pubic hair development

Testis size with orchidometer in boys

FHx of puberty onset

MID PARENTAL HEIGHT

Growth assessment is essential and should include height of the child, height velocity and an assessment of mid-parental height (accordingly, the heights of both parents should be ideally measured or, if this is not possible, estimated accurately). Note that mid-parental height is adjusted for the sex of the child, not a direct average. Calculation tools will commonly add 6.5 cm for male children or subtract 6.5 cm for female children owing to the average 13 cm height difference between men and women

Central nervous system (CNS) symptoms such as headache, visual changes/deficits, seizures and nausea/vomiting should be enquired about, as CNS lesions can trigger CPP

exogenous sources of hormones such as transdermal oestrogen creams in girls, or testosterone gels in boys. .

25
Causes of precocious puberty?
**Central precocious puberty** Early activation of the HPG axis, with initiation of pulsatile GnRH secretion resulting in pituitary LH and FSH release with resultant development of secondary sexual characteristics. Can be idiopathic, or due to any CNS disruption, including tumour and irradiation. This leads to an early onset of puberty with a normal pattern of development. **Peripheral precocious puberty,** also termed gonadotrophin-independent precocious puberty Increased levels of sex hormones, in the absence of HPG axis activation May be due to gonadal hormone release (such as ovarian cyst or tumour), ectopic hormone release (tumour), or exogenous hormones. This can lead to atypical patterns of sexual development due to the aberrant hormone exposure.
26
Tests for precocious puberty?
FSH LH Oestradiol (Total testosterone in boys) Bone age Xray TFT (If CNS symptoms MRI brain)
27
Management of a child with suspected central precocious puberty?
Urgent endo referral. Treatment is determined by psychologically ready for particular stage of pubertal growth and maximisation of adult height.
28
Treatment options available for CPP?
**GnRH agonist (GnRHa) therapy can be used to suppress puberty in CPP.** GnRHa treatment provides continuous stimulation of the pituitary gland, which disrupts the secretion of gonadotrophins and accordingly halts CPP. In Australia, two preparations are readily available; **leuprorelin depot and goserelin.** Leuprorelin is available on the Pharmaceutical Benefits Scheme (PBS) so is most commonly used for CPP. In some specific situations, goserelin may be preferred. Treatment must be **initiated by a paediatric endocrinologist and will be closely monitored.** GPs may be asked to prescribe subsequent doses or administer GnRHa under the direction of the paediatric endocrinologist.[52] **Cyproterone acetate** is a steroid that acts directly to suppress the gonad and centrally to suppress GnRH. This medication may sometimes be used as an adjunct to GnRHa treatment. It is effective in suppressing puberty but does not change final adult height so is not often used on its own.[42] _Hannah should be treated by a paediatric endocrinologist with GnRHa. Given that leuprorelin is available on the PBS, this is the most suitable choice of medication._
29
Side effects of GNRH agonists?
**Local reactions at the site of injection**, including sterile abscess or implant-site reaction, are common. Most children report that the injections are quite **painful.** After the first dose of GnRHa, **a slight progression of puberty can be seen because the medication initially will increase gonadotropin secretion.** **Hormone withdrawal symptoms**, akin to those seen in menopause, may also be seen at the start of treatment. A **transient decrease in bone mineral density i**s seen, but this normalises after the child has gone through puberty following treatment cessation.[53,54] There is **no clear evidence that GnRHa impairs fertility** in later life.
30
Can you adjust dose of Gnrh agonists? when can it be stopped?
Given as a fixed dose depot but may be given more frequently Usually given every 3 months but can be given every 2 months instead Stopped according to clinical context - psychogically ready for a particular height and maturation level AND maximising adult height Usually, GnRHa is stopped at approximately 10–12 years of age.[51] Pubertal signs usually progress or reappear within 2–16 months following cessation of GnRHa.[57]
31
**History questions for a tired patient?**
What is the **quantity and quality of her sleep**? Is she known to snore, and has anyone raised concerns about her stopping breathing in her sleep? Does she have a low mood? Has she had any post-menopausal bleeding? Has she experienced any weight loss or gain? Has she noticed any change in bowel habits? Were there any viral illnesses at the onset of symptoms? Is there any shortness of breath? What is her social history? Are there new psychosocial stressors, alcohol or other drugs? Are there risk factors for blood-borne virus infections? What is her past medical and surgical history? Conduct a review of the systems, looking for the following symptoms: haem – night sweats, fevers, bone pains, bruising, bleeding, recent infections, lymphadenopathy endocrine – increased thirst, polyuria cardiovascular – palpitations, ankle swelling, chest pain respiratory – shortness of breath, cough, wheeze, hoarseness gastrointestinal – change in bowel habits, rectal bleeding, indigestion, abdominal pain genitourinary – frequency, dysuria, haematuria musculoskeletal – inflamed joint, myalgia neurological – headaches, paraesthesia, power loss.
32
DDx for weight gain and lethargy?
hypothyroidism depression ovarian cancer anaemia diabetes obstructive sleep apnoea chronic kidney disease.
33
How does thyroid affect lipid metabolism?
1. Triiodothyronine (T3) is required to upregulate LDL-C receptors. 2. Thyroid hormones also increase cholesteryl ester transfer protein activity, which is important for HDL-C metabolism.[63]
34
Is there an association between hypothyroidism and anaemia?
There is an increased prevalence of anaemia among individuals with hypothyroidism.[64] Macrocytosis is found in up to 55% of patients with hypothyroidism and may be the result of insufficiency of the thyroid hormones themselves without nutritive deficit. T3 is known to enter cells and promotes cellular activity and metabolism. A lack of T3 is thought to lead to adaptive changes in metabolism at a cellular level. Nutritional deficiencies such as vitamin B12 deficiency are seen in up to 10% of individuals with autoimmune hypothyroidism.[65] It is important to consider the possibility of pernicious anaemia here. Further investigations would include haematinics, as well as intrinsic factor antibodies and parietal cell antibodies if vitamin B12 is found to be low.
35
Considerations when starting a hypothyroid patient on thyroxine?
For well individuals under 60 years of age, suggested initial dosing is 50–100 mcg thyroxine daily, with titrations of 25–50 mcg at no less than four weekly intervals according to thyroid function tests. The target TSH range in this group is 0.5–2 mU/L, the population average. For individuals over 60 years of age or with ischaemic heart disease, a slower titration is suggested. This is to avoid precipitating arrhythmia or myocardial ischaemia. An initial dose of 25–50 mcg is recommended, with titrations of 25 mcg at no less than four weekly intervals as required. A broader target TSH range of 0.5–5 mU/L is advised. In the long term, monitoring of Mabel’s thyroid function for both under-treatment and over-treatment is important.[67] Monitoring should take place at 6–8 week intervals until a steady state is achieved. Once thyroid function has normalised, reviews are recommended at three and six months, and thereafter annually if thyroid function remains stable and asymptomatic.[61] Thyroxine should be stored in the fridge, and patients should be informed that absorption can be impaired by food so it is best taken on an empty stomach. Likewise, certain drugs can impair absorption or alter the metabolism of thyroxine, so instructions regarding separate and consistent dosing is recommended for patients on concomitant therapy with: phenytoin carbamazepine frusemide heparin aspirin ferrous sulphate
36
What percentage of klinefelters remain undiagnosed through adult life?
70%