Endocrinology and Puberty Flashcards

1
Q

Factors influencing height [6]

A

Age, sex, race

Nutrition, socioeconomic status

Parental heights

Puberty, emotional wellbeing

General health, chronic disease, specific growth disorders

Skeletal maturity - bone age

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2
Q

Measurement techniques of growth [5]

A

Length, height (standing/sitting)

Head circumference

Growth charts and growth velocity

Bone age

Pubertal assessment

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3
Q

Causes of short stature (non-pathological) [3]

Causes of short stature (pathological) [5]

A

Familial

Constitutional

SGA/IUGR

Chronic illness eg JCA, IBD, celiac

Iatrogenic eg steroids

Psychological and social - undernutrition

Hormonal: growth hormone disorder, hypothyroidism

Turner and Prader-Willi syndrome

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4
Q

What differential diagnosis are you looking for when ordering U&E, LFT, calcium, CRP? [2]

A

Renal and liver disease

Disorders of calcium metabolism

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5
Q

What investigations to request when hormonal disorders are suspected? [5]

A

IGF-1

TFT

Prolactin, cortisol

Sex hormones

Gonadotrophins

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6
Q

Tanner method of staging puberty - 5 aspects

A

B (breast development)

G (genital development)

PH (pubic hair)

AH (axillary hair)

T (testicular vol) - 2-20ml

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7
Q

Causes of delayed puberty [6]

A

CDGP

Genetic - gonadal dysgensis in Turner and Klinefelter

Cryptorchidism

Chronic disease: celiac, asthma

Testicular irradiation

Impaired HPG axis:

  • Kallman’s syndrome
  • Craniopharyngioma
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8
Q

Types of early breast development [3]

What is the main aetiology?

A

Infantile thelarche

Thelarche variant

Central precocious puberty

Main aetiology is hypothalamic activation mediated

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9
Q

Early sexual development in girls can manifest in 3 ways

A

Early thelarche

Early menarche

Early appearance of secondary sexual characteristics

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10
Q

Congenital hypothyroidism - 2 causes

A

Athyreosis/hypoplastic/ectopic thyroid

Dyshormonogenic

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11
Q

Acquired hypothyroidism

Most common cause [1]

Clinical picture [4]

A

Autoimmune thyroiditis or Hashimotos

Family history of thyroid/autoimmune disorders

  • Lack of height gain
  • Pubertal delay or precocity
  • Poor school performance but hardworking
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12
Q

Obesity assessment ie what to look for upon examination [3]

Also assess for diabetic complications [2]

A

BMI

Waist circumference

Skin folds, acanthosis nigricans

Examine for complications

  • Metabolic syndrome
  • FLD
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13
Q

Causes of obesity [4]

A

Simple obesity - most common, ix rarely necessary

Drugs

Endocrine disorders

Hypothalamic damage

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14
Q

DKA prevention in DM 1 - describe aspects of think [4]

A

Thirsty
Thinner
Tired
using Toilet more - return to bed wetting or day-wetting in previously dry child is red flag

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15
Q

Test immediately -describe the method of testing in DM1 and the threshold

A

Finger prick capillary glucose test (random) and 2h post OGTT
If result >11.1 mmol/L

Fasting blood glucose is >7

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16
Q

Describe telephone in DKA management [2]

A

Telephone urgently

Contact specialist for same day review

17
Q

Signs of diabetes type 1 [4]

A

Blurred vision

Candidiasis - oral, vulval, recurring skin infections

Constipation

Irritability, behaviour change

18
Q

DKA sx [4]

A

Drowsiness, nausea and vomiting, coma

Abdominal pain

Ketotic breath - sweet smelling

Rapid, deep sighing respiration

19
Q

Precocious puberty definition

Which gender is it more common in and whats the clinical significance of this?

A

Define: development of secondary sexual characteristics before 8 years in females and 9 years in males

Males more uncommon usually an organic cause e.g. McCune Albright syndrome or gonadal tumour

Females most common, usually idiopathic or familial and follows normal sequence of puberty

20
Q

Triggers of DKA [4]

A

Intercurrent illness

Drugs - steroids

Psychological stress

Poor compliance

21
Q

Management of hypoglycaemia

What should a child with DM always have? [2]

What to do if confirmed hypoglycaemia and chlid is awake and aware? [2]

A

Children should always

  • have access to blood glucose testing equipment
  • an immediate source of carbohydrate eg. Lucozade, fruit juice (jelly babies are advised in some centres but as this involves chewing, RACH diabetes staff do not recommend this to families)

If the child is awake and aware:

  • give 10-15g immediate acting carbohydrate by mouth (e.g. 100ml Lucozade)
  • Recheck blood glucose within 15mins
  • follow up with additional complex carbohydrate to maintain normoglycaemia
22
Q

Management of hypoglycaemia if child is unco-operative but conscious [1]

If the child has decreased consciousness or is fitting [2]

A

If child is uncooperative but conscious:

  • Give Glucogel or Dextrogel into buccal cavity

If the child has a decreased conscious level or is fitting:

  • IM glucagon otherwise (parents and carers can be trained in the administration of glucagon)
  • IV 10% glucose if in hospital and IV access available
23
Q

Androgen insensitivity syndrome

Karyotype?

Inheritance pattern?

Ax [2]

What happens to the level of sex hormones?

A

Karyotype: 46 XY

X-linked recessive condition

Defect in androgen receptor results in end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.

Rudimentary vagina and testes present, no uterus

Testosterone, oestrogen and LH levels are elevated

24
Q

5-alpha reductase deficiency

Karyotype, inheritance pattern

Ax

A

46XY, Autosomal recessive condition.

Results in the inability of males to convert testosterone to dihydrotestosterone (DHT).

Individuals have ambiguous genitalia in the newborn period.

Hypospadias is common. Virilization at puberty.

25
Q

What are the 3 classifications of hermaphroditism?

A

Male pseudo

Female pseudo

True

26
Q

Male pseudohermaphroditism

Karyotype

Phenotype (sexual organs?) [2]

A

46 XY

Individual has testes but external genitalia are female or ambiguous.

May be secondary to androgen insensitivity syndrome

27
Q

Female pseudohermaphroditism

Karyotype

Phenotype

Ax

A

46 XX

Individual has ovaries but external genitalia are male (virilized) or ambiguous.

May be secondary to congenital adrenal hyperplasia

28
Q

True hermaphroditism

Karyotype

Phenotype

A

46 XX or 47 XXY

Very rare, both ovarian and testicular tissue are presen