Article

A rare cause of hypergonadotropism reported for the first time; ‘DiGeorge Syndrome’

2025-06-18

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs), involved in spermatogenesis, are located in this region. Although reproductive issues like hypogonadism and infert...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e14a84b0-403f-5d1f-85c2-92003fd08e31
DOI: 10.21203/rs.3.rs-6640169/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A rare cause of hypergonadotropism reported for the first time; ‘DiGeorge Syndrome’DOI 10.21203/rs.3.rs-6640169/v1Read

Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated.Semantic proximity Read

Gonadal Dysfunction in Wolfram Syndrome: A Prospective StudySemantic proximity Read

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.Semantic proximity Read

Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,<scp>XXY</scp> Klinefelter syndromeSemantic proximity Read

State of the art review in gonadal dysgenesis: challenges in diagnosis and managementSemantic proximity Read

DiGeorge Syndrome: a not so rare disease.Semantic proximity Read

Disorders of Sex Development: Classification, Review, and Impact on FertilitySemantic proximity Read

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patientsSemantic proximity Read

Male Hypogonadism and Disorders of Sex DevelopmentSemantic proximity Read

Expanding the differential diagnosis of male hypogonadism.Semantic proximity Read

Disorders of sexual differentiation in the adolescent.Semantic proximity Read

Klinefelter Syndrome and medical treatment: hypogonadism and beyond.Semantic proximity Read