SNP Shot: Genomic Insights

Familial male-limited precocious puberty (FMPP) is a condition affecting only males, causing them to enter puberty prematurely. Typically, boys with FMPP show signs of puberty between ages 2 and 5. These signs include a lower voice, acne, increased hair growth on the body, underarm odor, penis and testes enlargement, and spontaneous erections. Behavioral changes like increased aggressiveness and early sexual interest may also be observed. If untreated, boys with FMPP experience rapid growth early on, but their growth stops prematurely, resulting in a shorter adult height compared to their family members.

Inheritance:

FMPP follows an autosomal dominant, male-limited inheritance pattern. This means that only one copy of a mutated LHCGR gene is needed in each cell to cause the condition in males. Females who carry the mutation associated with FMPP do not show any symptoms. An affected male may inherit the mutation from either parent. However, in some instances, the mutation occurs spontaneously in the LHCGR gene of the male, even without any family history of the disorder.