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those who do not respond to medical therapy, or those who want immediate
results. Liposuction and reduction mammoplasty are the available surgical
options.- What are the causes of testicular enlargement in a boy with delayed puberty
who is on testosterone replacement therapy?
Normally with testosterone replacement therapy in a boy with delayed puberty,
there is no alteration in testicular size. However, increase in testicular volume
on testosterone replacement therapy in a boy with delayed puberty suggests the
diagnosis of CDGP or reversible idiopathic hypogonadotropic hypogonadism
(IHH). FGFR1, GNRHR, and CHD7 mutations are associated with reversible
IHH. Mechanisms implicated in reversal of IHH include modulation of GnRH
neuron plasticity or differentiation of progenitor cells present in subcortical
white matter into neuronal lineage in response to testosterone therapy. In addi-
tion, the neuroregenerative process in olfactory placode continues throughout
the life which may be further stimulated in response to gonadal steroid
therapy. - What are the causes to be considered in a well-virilized male with bilateral
small testes?
Approximately 90 % of testicular volume is contributed by seminiferous
tubule and the rest by Leydig cells. During pubertal development, progres-
sive virilization corresponds with increase in testicular volume. However,
patients with Klinefelter’s syndrome may have virilization without corre-
sponding increase in testicular volume. This is because Leydig cell func-
tions are usually normal during peripubertal period under intense LH drive,
whereas seminiferous tubules progressively degenerate possibly due to an
extra X chromosome. Recent-onset acquired postpubertal testicular failure
(e.g., orchitis) may also manifest with similar presentation as regression
of secondary sexual characteristics is tardy as compared to testicular atro-
phy. Further, testosterone therapy in patients with hypogonadism of any eti-
ology results in virilization without corresponding increase in testicular
volume (Figs. 7.19 and 7.20).
7 Delayed Puberty