Clinical Manifestations Of Childhood Hypopituitarism, Dwarfism And Empty Sella Syndrome

Hypopituitarism starting in childhood presents with a wide spectrum of disorders such as dwarfism (GH deficiency), hypogonadism (LH and FSH deficiency), hypothyroidism (TSH deficiency) or a combination of these.

Etiology: In general, the etiological factors operating in adults are seen in children as well. In addition, hypopituitarism may be part of a general abnormality in the CNS like absent septum pellucidum. Growth hormone deficiency may develop as a familial trait transmitted as an autosomal recessive.

Clinical features: The child is normal at birth. Growth retardation is evident at the age of 2 or 3 years when the growth rate falls to 50% of the normal. Such children are obsess with abnormal deposition of body fat. When there is associated hypothyroidism, retardation of bone growth is more severe.

In spite of growth retardation, these children have normal intelligence, but they may develop psychological disturbances due to their physical appearance. Hypogonadism leads to delay in the fusion of epiphyses. Such children continue to grow for longer periods, thus attaining taller stature than children whose gonadal function is normal.

Hypopituitarism has to be distinguished from other common causes of growth retardation. Pathological causes of dwarfism include malnutrition. Severe systemic illnesses, malabsorption states, skeletal disorders, corticosteroid therapy and deprivation dwarfism. Deprivation dwarfism occurs in children brought up in family circumstances under great stress, especially without maternal care.

This is defined as shortness of stature that is below the third percentile for children of similar age and ethnic group. Genetic and environmental factors influence growth. This is a common problem in pediatric practice. In many cases short stature is seen in families without any demonstrable pathology. Pathologically, dwarfism may result from several groups of conditions.

1. Major constitutional disorders- Generalised malnutrition, rickets, malabsorption states, congenital cyanotic heart disease, severe respiratory, hepatic or renal disease, long term corticosteroid thereapy.
2. Inherited and genetic disorders- achondroplasia, fragilitas ossium, aminoacidurias, other metabolic defects and Turner’s syndrome.
3. Endocrine disorders- Cretinism, juvenile hypothyroidism, adrenogenital syndrome, precocious puberty, hypopituitarism, hypothalamic disturbances, idiopathic hypoparathyroidism. The term “Frohlich’ syndrome (dystrophia adipose-genitalis) refers to the combination of dwarfism, obesity, hypogonadism and diabetes insipid and it is produced by a craniopharyngioma or chromophobe adenoma.
4. Psychogenic dwarfism or deprivation dwarfism. This is probably an emotionally mediated disorder unassociated with malnutrition, in which maternal deprivation leads to a selective deficiency of growth hormone. Provision of maternal care and emotional support improves the growth hormone levels and promotes growth.

Investigation and treatment: Management of a case of dwarfism depends upon the clinical findings and endocrine investigations. When dwarfism is due to deficiency of growth hormone, the treatment of choice is human growth hormone (HGH) given in a dose of 2-3 IU twice a week. Initial spurt of growth is remarkable and a linear growth of 12 to 15 cm may be obtained in one year, but the growth rate slows down later and at this stage higher, doses of hormone are needed. Concurrent use of anabolic steroids helps to improve growth and bring about a positive anabolic response.

Definition: This is a rare disorder in which the pituitary fossa is enlarged with accumulation of cerebrospinal fluid at the expense of pituitary tissue, which may be reduced to a small remnant. The condition may be primary in which anatomical defects occur in the diaphragm sellae or secondary to surgery or irradiation on the region of the pituitary.

Diagnosis: The condition may be associated with normal endocrine profile in 60% of cases. In 40% of cases, growth hormone response to stimuli and levels of gonadotropins may be reduced. X-ray skull may show either a normal sella or an enlarged Sella with thinned out dorsum sellae. The diagnosis is confirmed by air-encephalography which shows absence of diaphragm sellae and presence of CSF in the sella turcica. CT Scan is diagnostic.

Hormonal replacement is recommended if deficiency manifests.

Childhood hypopituitarism, dwarfism and empty sella syndrome are all clinical manifestations of pituitary hypofunctions. These ailment are of huge significance in global health