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“Male Precocious Puberty”, Victor McKusick, Mendelian Inheritance in Man, 1966. 男性早熟。

Here I present: “Male Precocious Puberty”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 男性早熟。

INTRODUCTION.

Precocious puberty symptoms can include fast growth, pubic or underarm hair growth, acne and adult body odor. Children who are born female have a first menstrual period and start to grow breasts. Children who are born male see the testicles and penis grow larger. They also develop a deeper voice and facial hair.


There is evidence that Male Precocious Puberty can be caused by constitutively activating mutations in the luteinizing hormone receptor gene (LHCGR).

The luteinizing hormone/choriogonadotropin receptor (LHCGR) is a transmembrane receptor found predominantly in the ovary and testis, but also many extragonadal organs such as the uterus and breasts. The receptor interacts with both luteinizing hormone (LH) and chorionic gonadotropins (hCG in humans) and represents a G protein-coupled receptor (GPCR). Its activation is necessary for the hormonal functioning during reproduction.

The screenshot of the LHCGR gene 68,951 bp (base pairs) of DNA sequence length on cytogenetic location 2p16.3 and genomic coordinates 2:48,686,774-48,755,724 is shown BELOW.  Nine (9) other genes besides LHCGR in the cytogenetic location are listed BENEATH. 

 

Coordinate  Symbol  Genomic Name.
2:48,313,659  FOXN2 Forkhead box N2
2:48,440,766  PPP1R21 Protein phosphatase 1, regulatory subunit 21
2:48,530,154  STON1 Stonin 1
2:48,617,856  GTF2A1L General transcription factor IIA, 1-like
2:48,686,774  LHCGR Lutein hormone/choriogonadotropin receptor
2:48,962,157  FSHR Follicle stimulating hormone receptor
2:49,918,503  NRXN1 Neurexin 1
2:53,669,980  ASB3 Ankyrin repeat-containing SOCS box protein 3
2:53,767,783  CHAC2 CHAC cation transport regulator homolog 2
2:53,787,044  ERLEC1 Erlectin (endoplasmic reticulum lectin 1)

 

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