Differences of Sex Development

Gene: PCSK1

I don't know

Hypogonadotrophic hypogonadism is not a consistently reported feature of this condition.

Created: 13 Jul 2020, 8:49 a.m. | Last Modified: 13 Jul 2020, 8:49 a.m.

Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity with impaired prohormone processing (MIM#600955)

Green List (high evidence)

Hypogonadotropic hypogonadism is a feature of this condition (OMIM), however is not a consistent phenotype between all patients.

PMID: 23562752: 13 individuals from 11 families reported with biallelic variant. 4 of 13 presented with hypogonadism

PMID: 23800642: Compound het frameshift and CNV encompassing PCSK1 identified in a proband with PCSK1 Deficiency. Low testosterone levels and micropenis noted on clinical examination.

PMID: 17595246: 1 proband with hyperphagia and early-onset obesity. Unsure if clinically consistent with DSD features.

PMID: 25272002: 1 family reported with a homozygous missense. Unsure if clinically consistent with DSD features.

PMID: 27187081: Review article. Hypogonadotropic hypogonadism appears to be a main feature.

Created: 13 Jul 2020, 6:15 a.m. | Last Modified: 13 Jul 2020, 6:15 a.m.

Panel Version: 0.50

Phenotypes
Obesity with impaired prohormone processing (MIM#600955)

Publications

• 23562752
• 23800642
• 17595246
• 25272002
• 27187081