Growth hormone deficiency and excess — branching viva

Branching viva on growth hormone deficiency and excess: recognising the short child crossing centiles downward and the overgrowing child accelerating upward, confirming with a stimulation test at the 6.7–10 ng/mL cutoff or an oral glucose suppression test, delivering recombinant growth hormone titrated to IGF-1 for deficiency, and transsphenoidal surgery with somatostatin analogue or pegvisomant for excess.

branching clinical structured oral1 min readVerification in progress

Prompt

Outpatient clinic: a 6-year-old boy is the shortest in his class, his height is below the third centile more than two standard deviations from the mid-parental range, his growth velocity is subnormal for age, and his IGF-1 is low. The examiner asks: why is this growth hormone deficiency and not a normal variant, what is the stimulation test and its cutoff, what is the recombinant growth hormone dose and how do you monitor it, and what is the Prader-Willi and the transition caveat — then branches to a second case of a 9-year-old girl with a growth velocity above the 97th centile, a high IGF-1, a pituitary macroadenoma abutting the chiasm, and asks you to explain gigantism versus acromegaly, the oral glucose suppression test, transsphenoidal surgery, and the role of pegvisomant and the AIP and X-LAG genetic subtypes.

Branch 1 — the short child (growth hormone deficiency)

The candidate is expected to justify growth hormone deficiency over a normal variant from the growth velocity and bone age, describe the stimulation test (clonidine or arginine; glucagon) with a peak below 6.7 to 10 ng/mL consistent with deficiency, and the pituitary magnetic resonance imaging and full axis panel that complete the work-up. ^[1] ^[3]

The examiner branches into therapy: the recombinant growth hormone dose of 0.045 to 0.050 mg/kg/day subcutaneous nocturnal titrated to the IGF-1, the monitoring of growth velocity, IGF-1, glucose, thyroid and adverse effects, and the two caviats — a sleep study before growth hormone in Prader-Willi syndrome because of upper-airway and sleep-apnoea risk, and the transition re-test at final height to decide whether adult growth hormone deficiency persists. ^[1]

References4Show

[1]Collett-Solberg PF, et al. Diagnosis, genetics, and therapy of short stature in children: a Growth Hormone Research Society international perspective. Horm Res Paediatr, 2019.PMID 31514194
[3]Murray PG, Dattani MT, Clayton PE. Controversies in the diagnosis and management of growth hormone deficiency in childhood and adolescence. Arch Dis Child, 2016.PMID 26153506
[10]Korbonits M, et al. Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases. Nat Rev Endocrinol, 2024.PMID 38336898
[12]Daly AF, et al. The genetic pathophysiology and clinical management of the TADopathy, X-linked acrogigantism. Endocr Rev, 2024.PMID 38696651

Growth hormone deficiency and excess — branching viva

branching clinical structured oral1 min readVerification in progress

Branch 1 — the short child (growth hormone deficiency)

References4Show

[1]Collett-Solberg PF, et al. Diagnosis, genetics, and therapy of short stature in children: a Growth Hormone Research Society international perspective. Horm Res Paediatr, 2019.PMID 31514194
[3]Murray PG, Dattani MT, Clayton PE. Controversies in the diagnosis and management of growth hormone deficiency in childhood and adolescence. Arch Dis Child, 2016.PMID 26153506
[10]Korbonits M, et al. Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases. Nat Rev Endocrinol, 2024.PMID 38336898
[12]Daly AF, et al. The genetic pathophysiology and clinical management of the TADopathy, X-linked acrogigantism. Endocr Rev, 2024.PMID 38696651