Approach to The Patient With Combined Pituitary Hormone Deficiency Due to a Novel Homozygous LHX3 Variant.

Clin Endocrinol (Oxf)Aug 5, 2026 (epub)
Case ReportEndocrinologyMedical Genetics

Sirmen Kızılcan Çetin, İbrahim Dikmen, Elif Özsu et al.

✦ AI-curated · Sources linked

Case in brief

A 4.8-year-old boy was evaluated for short stature and central hypothyroidism. Testing showed combined growth hormone, thyrotropin, and prolactin deficiencies, with intact ACTH secretion. Pituitary morphology on MRI was normal, and neck mobility and hearing were unremarkable. A targeted genetic panel was non-diagnostic; whole-exome sequencing later identified a homozygous LHX3 c.575 G>A, p.(Arg192His) variant in the homeodomain, with parental heterozygosity confirmed. His younger sister had the same variant and a similar endocrine phenotype. Growth velocity normalized with recombinant human growth hormone replacement.

What made this case unusual

The LHX3-associated hormone deficiencies occurred without the structural, auditory, or motor abnormalities often accompanying this condition; MRI showed normal pituitary morphology.

Diagnostic / clinical pearl

A non-diagnostic targeted panel does not exclude a genetic cause of unexplained combined pituitary hormone deficiency; serial genetic evaluation, including whole-exome sequencing, may identify an LHX3 variant.

Source

PubMed · PMID 42555267

Published in Clin Endocrinol (Oxf). This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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