paeds391

A child presents with hypothyroidism. Which of the following features is characteristic of hypothyroidism?

paeds393

Regarding the thymus, which of the following is true?

paeds394

Which of the following is most consistent with congenital adrenal hyperplasia (CAH)?

paeds395

A 17-year-old boy presents with a concern that he had not attained puberty. He lacks secondary sexual characteristics and has altered smell and reduced testicular size. Which of the following hormone profiles with regard to FSH (follicle-stimulating hormone), LH (luteinizing hormone) and testosterone would fit a diagnosis of Kallman syndrome for this patient?

paeds384

A 15-year-old child with learning difficulties is referred to the endocrine clinic for review. His lab results show hypocalcaemia and increased serum concentration of parathyroid hormone. On examination, there is subcutaneous calcification and a short fifth metacarpal in each hand.What is the treatment of choice in this case?

paeds385

A 15-year-old girl presents with vomiting and her investigations show:Sodium 115 mmol/L (137-144)Potassium 3.0 mmol/L (3.5-4.9)Urea 2.1 mmol/L (2.5-7.5)Urine sodium 2 mmol/LUrine osmolality 750 mosmol/kg (350-1000)What is the most likely diagnosis?

paeds386

A 16-year-old boy is being treated with ADH for diabetes insipidus. His blood results show:fasting plasma glucose level: 6 mmol/l (3-6)sodium 148 mmol/l (137-144)potassium 4.5 mmol/l (3.5-4.9)calcium 2.8 mmol/l (2.2-2.6). However, he still complains of polyuria, polydipsia and nocturia.What could be the most probable cause?

paeds387

A 16-year-old girl comes to clinic complaining of primary amenorrhoea, despite having developed secondary sexual characteristics at 11 years of age. On examination, she has well-developed breasts and small bilateral groin swellings. What is the most likely diagnosis?

paeds388

A 16-year-old woman presents with a 7 month history of secondary amenorrhoea and three months history of galactorrhoea. She has been otherwise well. She had menarche at the age of 12 and has otherwise had regular periods. She has been sexually active for approximately one year and has occasionally used condoms for contraception. She smokes five cigarettes daily and occasionally smokes cannabis.On examination, she appears well, and clinically euthyroid, has a pulse of 70 bpm and blood pressure of 112/70 mmHg.Investigations show:Serum oestradiol 130 nmol/L (130-600)Serum LH 4.5 mU/L (2-20)Serum FSH 2.2 mU/L (2-20)Serum prolactin 6340 mU/L (50-450)Free T4 7.2 pmol/L (10-22)TSH 2.2 mU/L (0.4-5.0)What is the most likely diagnosis?

paeds390

A 17-year-old Jewish girl presents with primary amenorrhoea. On examination, she looks a little hirsute and has evidence of facial acne. She is within her predicted adult height and has normal breast and external genitalia development, however, there is excess hair over her lower abdomen and around her nipple area.Investigations were as follows:Hb 13.1 g/dlWCC 8.6 x109/lPLT 201 x109/lNa+ 139 mmol/lK+ 4.5 mmol/lCreatinine 110 µmol/l17-OH progesterone 1.4 times the upper limit of normalPelvic ultrasound: bilateral ovaries and uterus visualised.Which of the following is the most likely diagnosis?