A 17-year 3-month-old male presents with concern for short stature. Patient is short, appears well-nourished, has no dysmorphic features, is normotensive, and noted to be prepubertal. Past medical history: Patient has been well and has not had any chronic illnesses nor has he been on any chronic medications. Parents report that he has always been among the shorter children at school. Birth history: Patient was born at full term by normal vaginal delivery. His birth weight was 2.5 kg and his birth length is not available. Developmental history: Parents report normal developmental milestones. No history of delayed dentition. Diet history: Patient consumes about 1800 kcal/day. Family history: Patient lives with his parents and younger brother. No reported medical or hormonal disorders in the immediate or extended family. Social history: Patient is studying in twelfth grade and reported good grades. Physical examination: Patient is noted to be 147 cm tall (–3.5 SD below mean) and 40 kg (–1.88 SD below mean). No evidence of goiter. Patient is noted to be tanner 1 for pubic hair with tanner 1 prepubertal testicles. Other systemic exam is within normal limits. Labs • Normal CBC, electrolytes, S. calcium and phosphorus, renal function, liver function and urinalysis • AM cortisol noted to be 4.6 mg/dL, stimulated cortisol level 15 mg/dL • FSH 0.51 mIU/mL, LH 0.10 mIU/mL, Testosterone <2.5 ng/dL • Prolactin 11.44 ng/mL • TSH 0.019 mcIU/L (0.6–5.5), fT4 0.6 ng/dL (0.8–1.7) • Testosterone primed GH stimulation testing with clonidine noting peak GH level below 3 ng/mL.
What investigations would be indicated in patients presenting with delayed puberty?
Medicine
Evaluation of delayed puberty should include a detailed history, thorough physical exam to assess nutritional status, biochemical testing for hormone levels and to look for any systemic diseases, and may entail imaging modalities such as bone age X-ray.
History: Childhood growth patterns and development medical or surgical history to rule out any chronic systemic, autoimmune or endocrine diseases, history of any radiation exposure, any complaints of anosmia, assessment of diet and nutritional status, exercise and activity. History of any prolonged jaundice at birth or recurrent hypoglycemia, seizures should be elicited. Family history of pubertal delay or infertility should be obtained. The timing of puberty is influenced by nutritional, genetic, ethnic and environmental factors. Physical examination: Detailed anthropometrics, sexual maturity, dysmorphic features suggestive of any syndromes, presence of gynecomastia, micropenis, sense of smell. Biochemical/Hormonal assessment:
• Plasma testosterone or estradiol
• Plasma follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
• Bone age X-ray
• Tests of olfaction. Further studies that may be indicated are:
• Magnetic resonance imaging (MRI) with contrast enhancement to rule out any pituitary or hypothalamic pathology
• GnRH or GnRH agonist stimulation test
• Visual acuity and visual fields
• Karyotype
• Pelvic/abdominal ultrasonography. Other hormonal evaluation (usually in males):
• Assessment of hCG stimulation of testosterone levels
• AMH (anti-Müllerian hormone)
• Inhibin B
• Evaluation of other pituitary axes—plasma thyroxine, thyroid-stimulating hormone (TSH)
• Cortisol, IGF-1, prolactin
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