Condition report · Endocrine

Familial Precocious Puberty

Inherited forms of early puberty caused by variants in genes such as MKRN3, DLK1, KISS1R, KISS1 and LHCGR. Puberty starts before age 8 in girls or 9 in boys.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

Central precocious puberty

Early activation of the brain signals that start puberty, including familial forms due to MKRN3, DLK1, KISS1 and KISS1R variants.

What a diagnosis changes

Treatment with GnRH analogues can pause puberty until a more typical age.

Genes analysed

Also known as

gonadotropin-dependant precocious puberty; gonadotropin-dependent precocious puberty; precocious puberty, central

Includes 11 related subtypes ↓

central precocious puberty 1
central precocious puberty in male
genetic central precocious puberty in female
genetic central precocious puberty in male
idiopathic central precocious puberty
non-genetic central precocious puberty in male
precocious puberty, central, 2
primary central precocious puberty in male
secondary central precocious puberty
secondary central precocious puberty in female
secondary central precocious puberty in male

MONDO:0019165 Orphanet 650063 Orphanet 759 MedGen 90985

Familial male-limited precocious puberty

Autosomal dominant

Early puberty in boys caused by activating LHCGR variants, independent of brain signals; female carriers are unaffected.

What a diagnosis changes

Treatment that blocks testosterone production or action can slow early puberty.

Genes analysed

LHCGR

Also known as

familial gonadotropin-independent male-limited sexual precocity; familial Testotoxicosis (subtype); FMPP; leydig cell adenoma, somatic, with precocious puberty; LHCGR peripheral precocious puberty; male-limited precocious puberty; peripheral precocious puberty caused by mutation in LHCGR; precocious puberty, male; precocious puberty, male limited; pubertas praecox; testotoxicosis; testotoxicosis, familial

MONDO:0008303 OMIM 176410 Orphanet 3000 MedGen 87444

Limitations

MKRN3 and DLK1 are imprinted: only variants inherited from the father cause early puberty, which this test cannot determine on its own.

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