Which clinical history findings are characteristic of congenital hyposomatotropism (growth hormone deficiency [GHD])?

Updated: Jan 24, 2019
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Robert P Hoffman, MD  more...
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Answer

Infants with congenital growth hormone (GH) deficiency (GHD) are typically born with a length and weight between the 5th and 10th percentile for their gestational age. A family history of short stature or parental consanguinity may suggest a genetic etiology.

One study compared fetal and neonatal growth curves in detecting growth restriction. [37]  Newborns with congenital hypopituitarism (defined as deficiencies of all anterior pituitary hormones) often present with midline craniofacial abnormalities (eg, single central maxillary incisor, cleft lip or palate, optic hypoplasia), hypoglycemia, blindness, micropenis, and hyperbilirubinemia. [38]

Hypoglycemia can be profound and clinically resembles congenital hyperinsulinism in patients with GHD or, especially, hypopituitarism. Hypoglycemia results from the lack of counterregulatory hormones important for glucose homeostasis; these include GH, corticotropin, and thyroid-stimulating hormone. Although not usually considered a source for hypoglycemia, thyroid hormone may stimulate gluconeogenesis and increase insulin clearance. This mechanism could account for the hyperinsulinemic hypoglycemia observed in a small number of patients with congenital hypothyroidism. [39, 40, 41, 42]

The combination of microcephalus, cryptorchidism, and hypoplasia of the scrotum can occur with coexistent GHD and gonadotropin deficiencies. [43] Testosterone bioactivity plays an essential role in the differentiation and development of the male genitalia. During the first trimester, GH modulates fetal testosterone production, perhaps by regulating placental chorionic gonadotropins. During the second and third trimesters, testosterone production appears to be independent of GH and relies on fetal pituitary gonadotropins.

Liver disease has been associated with neonatal hypopituitarism. [44] Hypothyroidism is a well-recognized cause of neonatal jaundice, typically an indirect hyperbilirubinemia. The current theory regarding conjugated hyperbilirubinemia is based on the relationship of GH to bile acid synthesis. GH stimulates the synthesis of bile acids, which are major determinants for the induction of canalicular bile secretion. Cholestasis associated with congenital hypopituitarism resolves with hormone replacement.

Neonatal hypoglycemia, persistent cholestatic jaundice, or hypogonadism in a male patient should immediately suggest the possibility of GHD. Neonatal hypopituitarism is potentially fatal if left untreated.


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