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Article

A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation.

Endocrine journal - 1 Feb 2002

Miyako Kenichi, Takemoto Megumi, Ihara Kenji, Kuromaru Ryuichi, Kohno Hitoshi, Hara Toshiro

Abstract excerpt

We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY. Endocrinological studies revealed growth...

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Source

Identifiers

PMID: 12008745
DOI: 10.1507/endocrj.49.15

Genes

HESX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-12008745-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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