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?

paeds389

A 17-year-old boy was brought to clinic, as his parents were concerned regarding possible delayed puberty. He was otherwise well, played sports regularly and his academic performance was good. His height was 1.7m and weight was 70 kg. On examination, he had a small penis and testes, absent pubic hair, but no other abnormalities. Investigations revealed: Serum testosterone 4 nmol/L (9-35) Plasma follicle stimulating hormone (FSH) 1 U/L (1-7) Plasma luteinising hormone (LH) 1 U/L (1-10) Plasma prolactin 300 mU/L (<450) Plasma TSH 2 mU/L (0.5-5) Which one of the following is the most likely cause?

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?

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?

paeds380

A 13-year-old girl presents with short stature, webbed neck, cubitus valgus and primary amenorrhea.Which of the following hormones is most important for long term replacement?

paeds379

A 13-year-old boy is brought to your clinic with a complaint of delayed puberty.While examining the patient which of the following features is most likely to indicate that pubertal change may have commenced?

paeds377

A 12-year old girl was brought to the hospital with recurrent headaches for 6 months. Her physical examination revealed no abnormality. A CT scan of the head revealed a suprasellar mass with calcifications, eroding the surrounding sella turcica. The lesion is likely to represent:

paeds376

An 18-year-old girl presents with complaints of primary amenorrhoea. Which of the following is the first sign of the onset of puberty?

paeds375

A 40-week-old baby presented with a weak cry and failure to thrive. The mother gives a history of prolonged neonatal jaundice and says it is common in her family. On examination, a large tongue was noticed. What is the most likely diagnosis?

paeds374

A 16-year-old boy presents with poor development of secondary sex characteristics, colour blindness and a decreased sense of smell. On examination, his testes are located in the scrotum and are small and soft. What is the most likely diagnosis for this boy?