Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene

A male child, aged seven months, visited the out patients clinic of the National Institute of Child Health, Karachi, in May 2020 with the features of iso-sexual puberty. After ruling out the more common causes of early puberty, like congenital adrenal hyperplasia and tumours secreting chorionic gona...

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Bibliographic Details
Published inJournal of the Pakistan Medical Association Vol. 73; no. 12; pp. 2458 - 2461
Main Authors Shahid, Ayesha, Ibrahim, Mohsina Noor
Format Journal Article
LanguageEnglish
Published Pakistan Knowledge Bylanes 31.12.2023
Pakistan Medical Association
Subjects
Cell receptors
Child
Chorionic Gonadotropin
Diagnosis
Gene mutations
Genetic
Genetic aspects
Gonadotrophins
Gonadotropin
Health aspects
Humans
Infant
Male
Mutation
Mutation, Missense
Pakistan
Precocious puberty
Puberty
Puberty, Precocious - genetics
Receptors, LH - genetics
Testosterone
Pakistan
Testosterone, Puberty, Gonadotrophins, Mutation, Genetic
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Summary:A male child, aged seven months, visited the out patients clinic of the National Institute of Child Health, Karachi, in May 2020 with the features of iso-sexual puberty. After ruling out the more common causes of early puberty, like congenital adrenal hyperplasia and tumours secreting chorionic gonadotropin hormone, hormonal assessment indicated raised testosterone independent of gonadotropin. The volume of the testicles was symmetric and testicular ultrasonography revealed no mass. Genetic analysis for the LHCGR gene was performed for confirmation which revealed activating heterozygous missense pathogenic mutation in c.1732G>T (p.Asp578Tyr). This is the first reported case of testotoxicosis (FMPP) from Pakistan which was genetically confirmed.
ISSN:0030-9982
DOI:10.47391/JPMA.7455