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  • Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

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Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
  1. A-K Jbour1,
  2. A F Mubaidin2,
  3. M Till3,
  4. H El-Shanti1,4,
  5. A Hadidi5,
  6. K M Ajlouni1
  1. 1National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan
  2. 2Department of Internal Medicine, King Hussein Medical Centre, Amman, Jordan
  3. 3Department of Ophthalmology, Jordan University Hospital, Amman, Jordan
  4. 4Department of Paediatrics, Jordan University of Science and Technology, Irbid, Jordan
  5. 5Department of Radiology, Jordan University Hospital, Amman, Jordan
  1. Correspondence to:
 Dr H El-Shanti, PO Box 2983, Amman 11821, Jordan;
 hatem{at}just.edu.jo

https://doi.org/10.1136/jmg.40.1.e2

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    A number of syndromes have been described in which hypogonadotrophic hypogonadism is associated with multiple somatic and neurological anomalies such as tall stature, anosmia, ataxia, mental retardation, and choroidal dystrophy.1–7 The large number of syndromes indicates the considerable clinical heterogeneity associated with hypogonadotrophic hypogonadism. In this report, we describe an unusual constellation of neuroendocrinological findings in an Arab family with three affected sibs. A major finding is hypogonadotrophic hypogonadism associated with short stature owing to gonadotrophic and somatotrophic cellular dysfunction in the anterior pituitary. Although, we discuss several possible modes of inheritance, we speculate that the mode of inheritance of this disorder in this family is autosomal recessive.

    PATIENTS, MATERIALS, AND METHODS

    The family was ascertained through the proband VI.5 (fig 1). All three seemingly affected family members had a detailed evaluation by an endocrinologist, a neurologist, a clinical geneticist, and an ophthalmologist. Three of the four older sibs were examined by the same team and were reported to be normal. The three affected subjects also had electrocardiograms, echocardiograms, brain and pituitary MRI, electromyography, nerve conduction studies, electroretinograms, and electro-oculograms.

    Figure 1

    The family pedigree showing the three affected sibs (VI.5, VI.6, VI.7) and indicating the consanguinity. There are four possibly affected relatives (V.1, V.2, V.3, V.4).

    Patient 1 (VI.5)

    This male patient is currently 21 years old. He was the product of a 35 week gestation born by normal spontaneous vaginal delivery. At birth, he developed respiratory distress requiring neonatal intensive care for about 6 weeks. He achieved the early milestones of development on time but there is no available record for his growth pattern during the early years.

    The onset of symptoms was gradual with a slowly progressive ataxic gait around the age of 6 years, which was associated with a progressive decline in his scholastic performance. He presented to us at the age of …

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