Leydig Cell Hypoplasia, Type I

Description

Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000). ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23 ) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB (OMIM ) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

Clinical Features

Top most frequent phenotypes and symptoms related to Leydig Cell Hypoplasia, Type I

  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation
  • Hypogonadism
  • Micropenis
  • Infertility
  • Amenorrhea
  • Ambiguous genitalia
  • Primary amenorrhea
  • Hypergonadotropic hypogonadism

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Leydig Cell Hypoplasia, Type I Is also known as leydig cell agenesis, leydig cell hypoplasia, complete, hypergonadotropic hypogonadism, male, due to lhcgr defect, leydig cell hypoplasia with male pseudohermaphroditism.

Researches and researchers

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Leydig Cell Hypoplasia, Type I Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Male Precocious Puberty (LHCGR) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LHCGR
Specificity
100 %
Genes
100 %
Male-Limited Precocious Puberty.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

LHCGR
Specificity
100 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
LHCGR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LHCGR
Specificity
100 %
Genes
100 %
Leydig cell adenoma, somatic, with precocious puberty (sequence analysis of LHCGR gene).

By CGC Genetics (Portugal).

LHCGR
Specificity
100 %
Genes
100 %
LHCGR-related Disorders via LHCGR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LHCGR
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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