Endocrinology and Puberty Flashcards
Factors influencing height [6]
Age, sex, race
Nutrition, socioeconomic status
Parental heights
Puberty, emotional wellbeing
General health, chronic disease, specific growth disorders
Skeletal maturity - bone age
Measurement techniques of growth [5]
Length, height (standing/sitting)
Head circumference
Growth charts and growth velocity
Bone age
Pubertal assessment
Causes of short stature (non-pathological) [3]
Causes of short stature (pathological) [5]
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
What differential diagnosis are you looking for when ordering U&E, LFT, calcium, CRP? [2]
Renal and liver disease
Disorders of calcium metabolism
What investigations to request when hormonal disorders are suspected? [5]
IGF-1
TFT
Prolactin, cortisol
Sex hormones
Gonadotrophins
Tanner method of staging puberty - 5 aspects
B (breast development)
G (genital development)
PH (pubic hair)
AH (axillary hair)
T (testicular vol) - 2-20ml
Causes of delayed puberty [6]
CDGP
Genetic - gonadal dysgensis in Turner and Klinefelter
Cryptorchidism
Chronic disease: celiac, asthma
Testicular irradiation
Impaired HPG axis:
- Kallman’s syndrome
- Craniopharyngioma
Types of early breast development [3]
What is the main aetiology?
Infantile thelarche
Thelarche variant
Central precocious puberty
Main aetiology is hypothalamic activation mediated
Early sexual development in girls can manifest in 3 ways
Early thelarche
Early menarche
Early appearance of secondary sexual characteristics
Congenital hypothyroidism - 2 causes
Athyreosis/hypoplastic/ectopic thyroid
Dyshormonogenic
Acquired hypothyroidism
Most common cause [1]
Clinical picture [4]
Autoimmune thyroiditis or Hashimotos
Family history of thyroid/autoimmune disorders
- Lack of height gain
- Pubertal delay or precocity
- Poor school performance but hardworking
Obesity assessment ie what to look for upon examination [3]
Also assess for diabetic complications [2]
BMI
Waist circumference
Skin folds, acanthosis nigricans
Examine for complications
- Metabolic syndrome
- FLD
Causes of obesity [4]
Simple obesity - most common, ix rarely necessary
Drugs
Endocrine disorders
Hypothalamic damage
DKA prevention in DM 1 - describe aspects of think [4]
Thirsty
Thinner
Tired
using Toilet more - return to bed wetting or day-wetting in previously dry child is red flag
Test immediately -describe the method of testing in DM1 and the threshold
Finger prick capillary glucose test (random) and 2h post OGTT
If result >11.1 mmol/L
Fasting blood glucose is >7
Describe telephone in DKA management [2]
Telephone urgently
Contact specialist for same day review
Signs of diabetes type 1 [4]
Blurred vision
Candidiasis - oral, vulval, recurring skin infections
Constipation
Irritability, behaviour change
DKA sx [4]
Drowsiness, nausea and vomiting, coma
Abdominal pain
Ketotic breath - sweet smelling
Rapid, deep sighing respiration
Precocious puberty definition
Which gender is it more common in and whats the clinical significance of this?
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
Triggers of DKA [4]
Intercurrent illness
Drugs - steroids
Psychological stress
Poor compliance
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]
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
Management of hypoglycaemia if child is unco-operative but conscious [1]
If the child has decreased consciousness or is fitting [2]
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
Androgen insensitivity syndrome
Karyotype?
Inheritance pattern?
Ax [2]
What happens to the level of sex hormones?
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
5-alpha reductase deficiency
Karyotype, inheritance pattern
Ax
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.
What are the 3 classifications of hermaphroditism?
Male pseudo
Female pseudo
True
Male pseudohermaphroditism
Karyotype
Phenotype (sexual organs?) [2]
46 XY
Individual has testes but external genitalia are female or ambiguous.
May be secondary to androgen insensitivity syndrome
Female pseudohermaphroditism
Karyotype
Phenotype
Ax
46 XX
Individual has ovaries but external genitalia are male (virilized) or ambiguous.
May be secondary to congenital adrenal hyperplasia
True hermaphroditism
Karyotype
Phenotype
46 XX or 47 XXY
Very rare, both ovarian and testicular tissue are presen
