Deficiency of 17-ketoreductase presenting before puberty

Related Experiment Video

Updated: Nov 8, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

J W Gregory1, A Aynsley-Green, B A Evans

  • 1Department of Child Health, University of Newcastle upon Tyne.

Hormone Research
|January 1, 1993
PubMed

Insights

Diagnosis of 17-ketoreductase deficiency in infants is challenging. This study highlights key diagnostic indicators in prepubertal children with disorders of sex development, including specific hormonal responses.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • 17-ketoreductase deficiency diagnosis is typically post-pubertal.
  • Prepubertal diagnosis data for 17-ketoreductase deficiency is limited.
  • Disorders of Sex Development (DSD) require early diagnosis for appropriate management.

Observation:

  • Two 46,XY infants with female external genitalia, inguinal hernias, and palpable gonads were studied.
  • Gonadal biopsy revealed testicular tissue; both had a short vagina and absent uterus.
  • Infants presented with ambiguous genitalia, necessitating further investigation.

Findings:

  • Human chorionic gonadotropin (hCG) stimulation test revealed minimal plasma testosterone but a marked androstenedione response, confirming 17-ketoreductase deficiency.
  • Androgen receptor deficiency was identified in one case via genital skin fibroblast studies.
  • Elevated androstenedione levels are a key indicator in prepubertal 17-ketoreductase deficiency.

Implications:

  • Early diagnosis of 17-ketoreductase deficiency in infants is possible with specific hormonal testing.
  • Findings suggest a potential link between androgen deficiency and failed androgen receptor induction.
  • This research aids in understanding and managing DSD in early childhood.

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pedigree Analysis02:21

Pedigree Analysis

A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Signs of Puberty01:27

Signs of Puberty

Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...