247and may be considered for therapy if serum LH starts rising. However, data
regarding the use of testosterone therapy during peripubertal period are scarce
in patients with KFS as the diagnosis is commonly made in early adulthood.- What are the fertility prospects in a patient with KFS?
Less than 10 % of patients with classical KFS have spermatozoa in their ejacu-
late, and donor sperm was the only fertility option for majority of patients with
KFS in the past. However, it is now known that even in patients of KFS with
azoospermia, there are patchy areas of spermatogenesis in the testis, irrespective
of testicular size, serum FSH, inhibin B, and AMH levels. The advent of testicu-
lar sperm extraction (TESE) has led to improvement in sperm retrieval rates to
40–50 % in patients with KFS and up to 70 % with the use of micro- TESE. TESE
involves excision of a small piece of testicular tissue followed by in vitro extrac-
tion of sperm, whereas micro-TESE involves selective excision of seminiferous
tubules with active spermatogenesis (identified as swollen seminiferous tubules)
followed by in vitro extraction of sperm. After sperm extraction, intracytoplas-
mic sperm injection (ICSI) is performed. However, even with these newer tech-
nologies, the live birth rates vary from 20 to 46 %.- What are the risks associated with fertility in males with KFS?
KFS is a disorder that occurs due to meiotic nondisjunction of sex chromo-
somes. Therefore, there are concerns for having hyperhaploid spermatozoa
rather than haploid sperms (24,XX or 24,XY instead of 23,X or 23,Y) during
meiosis, which may result in chromosomal abnormalities in fetus like 47,XXX
or 47,XXY. In addition, there is a higher risk of autosomal abnormalities in
chromosome 13, 18, and 21. Chromosomal analysis of sperms from patients
with KFS revealed sex chromosomal abnormalities in 4.4 % and autosomal
abnormalities in 2 % of sperms. Chromosomal analysis of embryos of KFS
couples showed sex chromosomal abnormalities in 13.2 % and autosomal
abnormalities in 15.6 % of embryos, as compared to 3.1 % and 5.2 %, respec-
tively, in control population. Hence, genetic counseling should be provided to
all KFS couples planning fertility, and preimplantation genetic diagnosis may
be considered.- What is gynecomastia?
Gynecomastia is defined as enlargement of glandular breast tissue in males.
Gynecomastia can be physiological during three phases of life: neonatal
period, puberty, and old age. Neonatal gynecomastia is seen in 60–90 % of
infants and commonly regresses within first year of life. It occurs as a result of
transplacental transfer of maternal estrogens. During puberty, 48–64 % of boys
can have gynecomastia, which is commonly bilateral but asymmetrical and
painful. Approximately 50–70 % of elderly men (50–80 years) have gyneco-
mastia, which is due to age-related decrease in testosterone (“andropause”)7 Delayed Puberty