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Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Disease definition

This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

ORPHA:2234

Classification level: Disorder
  • Synonym(s):
    • Sohval-Soffer syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 307500
  • UMLS: C2931285
  • MeSH: C536679
  • GARD: 4899
  • MedDRA: -

Summary

Epidemiology

It has been described in two brothers.

Clinical description

Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.

- Last update: May 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.