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Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect?

Fotini Psychou1, Polyxeni Nicolaidou, Helen Georgouli

  • 1First Pediatric Department, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece.

Hormones (Athens, Greece)
|October 5, 2006
PubMed

Insights

This study details a boy with pseudohypoparathyroidism (PHP) and hypothyroidism who exhibited developmental delay and low growth hormone (GH). He showed no response to growth hormone-releasing hormone (GHRH), suggesting a potential GHRH receptor defect.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Pseudohypoparathyroidism (PHP) is a genetic disorder characterized by resistance to parathyroid hormone (PTH).
  • Albright's hereditary osteodystrophy (AHO) presents with characteristic physical features and biochemical abnormalities.
  • Combined endocrine deficiencies can occur in PHP, impacting growth and development.

Purpose of the Study:

  • To report a case of a boy with pseudohypoparathyroidism, hypothyroidism, and impaired growth hormone (GH) secretion.
  • To investigate the response to growth hormone-releasing hormone (GHRH) stimulation in this patient.
  • To explore potential receptor defects contributing to the observed endocrine dysfunction.

Main Methods:

  • Clinical presentation and physical examination for AHO features.
  • Biochemical assays for serum calcium, phosphate, PTH, thyroxine (T4), and thyroid-stimulating hormone (TSH).
  • Provocative testing for GH secretion using Glucagon, L-Dopa, and GHRH; Insulin-like Growth Factor I (IGFI) measurement before and after GH administration.

Main Results:

  • The patient displayed features of AHO and biochemical evidence of PHP (hypocalcemia, hyperphosphatemia, elevated PTH) with no response to PTH.
  • Hypothyroidism was confirmed with low T4 and high TSH.
  • Growth hormone (GH) levels remained low (<2.5 microg/L) after Glucagon/L-Dopa and GHRH stimulation (<0.2 microg/L), but responded to exogenous GH administration.

Conclusions:

  • The patient has confirmed PTH and TSH receptor defects.
  • The lack of GH response to GHRH suggests a possible GHRH receptor defect.
  • This case highlights the complex endocrine interplay and potential for multiple receptor defects in PHP.

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