© Springer India 2016 211
A. Bhansali et al., Clinical Rounds in Endocrinology,
DOI 10.1007/978-81-322-2815-8_7
7
7 Delayed Puberty xviii
7.1 Case Vignette
A 19-year-old male presented with complaints of failure to develop secondary sexual
characteristics. He was born at term through normal vaginal delivery, and his devel-
opmental milestones were normal. He was average in scholastic performance and
studied up to tenth standard. He had history of learning disabilities but no behavioral
abnormalities. He was tallest among his peers during late teenage. He noticed appear-
ance of pubic and axillary hair by 15 years of age, but failed to develop facial or body
hair or increase in penile length or size of the testes. There was no history of head
trauma, surgery for midline defects, chronic systemic illness, testicular trauma,
mumps, or drug abuse. He had no history of abnormality in smell, visual deficits,
headache, seizure disorder, or other neurological deficits. There was no family history
of delayed puberty, infertility, or gynecomastia. He did not receive any medical treat-
ment prior to visit to this hospital. On examination, his height was 170 cm (height -1
SDS, height age 15 years, target height 173 cm), weight was 55 Kg (weight age
15 years), and blood pressure was 110/70 mmHg. Anthropometry showed eunuchoi-
dal proportions with upper segment/lower segment ratio (US: LS, 80:90 cm) 0.88 and
arm span exceeding height by 10 cm. There was no gynecomastia. Tanner stage of
pubertal development was A+, P 2 , and both testes were present within poorly devel-
oped scrotal sac and soft in consistency and measured 1 ml each. The stretched penile
length was 8 cm. His sense of smell was normal. He had genu valgum but no midline
defects, synkinesia, nystagmus, ataxia, and visual deficits. On investigations, com-
plete blood count and liver and renal function tests were normal. Hormonal profile
revealed serum LH 0.29 mIU/ml (N 1.7–8.6), FSH 0.69 mIU/ml (N 1.5–12.4), testos-
terone 0.44 nmol/L (N 9.9–27.8), estradiol 12.3 pg/ml (N 7.6–42.6), prolactin 9.6 ng/
ml (N 4–15.2), T 4 7.32 μg/dl (N 4.8–12.7), TSH 1.9 μIU/ml (N 0.27–4.2), and 0800h
cortisol 447 nmol/L (N 171–536). His bone age was 15 years. CEMRI sella and olfac-
tory region did not display any abnormality. LH response to triptorelin at 4h was
2.8 mIU/ml. Serum testosterone at baseline was 0.45 nmol/L, and in response to hCG,
it increased to 1.2 nmol/L (after 24h of last injection of hCG). Based on available