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Recessive Robinow syndrome: with emphasis on endocrine functions
A T Soliman1, A Rajab, I Alsalmi
1Department of Pediatric Endocrinology, University of Alexandria Children's Hospital, Loran, Egypt.
Metabolism: Clinical and Experimental
|November 24, 1998
Summary
Children with recessive Robinow syndrome exhibit significant growth delay and potential hormonal imbalances. Early human chorionic gonadotropin (HCG) therapy may improve severe micropenis in affected boys.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Robinow syndrome is a rare genetic disorder characterized by skeletal abnormalities and growth retardation.
- Recessive form of Robinow syndrome presents with intrauterine and early extrauterine growth delay, leading to short stature.
- Hormonal evaluation is crucial for understanding the pathophysiology and potential therapeutic interventions in affected children.
Purpose of the Study:
- To characterize the growth patterns and hormonal profiles in children with recessive Robinow syndrome.
- To assess growth hormone (GH) secretion, insulin-like growth factor-I (IGF-I) levels, and gonadotropin responses to stimulation tests.
- To evaluate the potential of human chorionic gonadotropin (HCG) therapy in managing micropenis in boys with Robinow syndrome.
Main Methods:
- Studied 14 children with recessive Robinow syndrome, assessing anthropometric data and growth velocity.
- Measured growth hormone (GH) response to clonidine provocation and serum insulin-like growth factor-I (IGF-I) concentrations.
- Evaluated gonadotropin (luteinizing hormone [LH], follicle-stimulating hormone [FSH]) and testosterone responses to gonadotropin-releasing hormone (GnRH) and human chorionic gonadotropin (HCG) stimulation.
Main Results:
- Children presented with short birth length and markedly slow growth velocity, resulting in significant short stature by one year of age.
- Despite empty sella, patients showed adequate GH response and normal IGF-I levels. Boys had low testosterone response to HCG, but normal FSH.
- HCG therapy in boys improved penile length and testicular volume, indicating Leydig cell function and androgen receptor presence.
Conclusions:
- Recessive Robinow syndrome is associated with intrauterine and early postnatal growth delay, reflecting low growth potential.
- Hormonal evaluations reveal adequate GH secretion but impaired testosterone response in males and potential ovarian hyporesponsiveness in females.
- Early HCG and/or testosterone therapy is suggested to potentially improve severe micropenis in infants with Robinow syndrome.