Prevalence: 1/3,000 to 4,000 births. Group of congenital hypophyseal pathologies in which several hormonal deficiencies are associated. They are due to a mutation in one of the transcription factors involved in hypophyseal ontogeny.
Mutated genes can be:

ü        PROP1 (5q35.3) [MIM 601 538]; autosomal recessive transmission;  somato-lactotropic (around 8 years of age), thyreotropic (9 years), gonadotrophic, and sometimes adrenocorticotropic (delayed) deficiencies. The pituitary gland is normal, hyper - or hypoplastic.

ü        POUF1: autosomal recessive or dominant transmission. somato-lactotropic, thyreotropic deficiencies;  hyperplastic and hypoplastic pituitary gland

ü        PIT1 (3p11.2) [MIM 173 110]: somato-lactotropic and thyreotropic deficiencies;

ü        HESX1: autosomal recessive or dominant transmission. varied deficiencies associated with septo-optic dysplasia (see this term) and ectopic posterior pituitary gland

ü        LHX3: recessive autosomal transmission; somato-lactotropic, thyreotropic, gonadotrophic deficiencies associated with a limitation of the rotation of the head and neck

ü        LHX4: dominant autosomal transmission; varied deficiencies associated with an ectopic posterior pituitary gland and brain malformations

ü        SOX3: X-linked transmission; growth hormone deficiency, isolated or combined with other hypophyseal deficiencies, associated with mental retardation and with corpus callosum anomalies

Symptomatology according to the pituitary deficiencies (in the absence of substitutive therapy):

1)   growth hormone deficiency

-        newborn: persistent hypoglycemia, neonatal jaundice

-        child: break in the growth curve from the age of 4 years, chubby facies

-        adult: asthenia, hypoglycemia, muscle weakness

2)   ACTH deficiency:

-        newborn: hypoglycemia, hypotension, loss of salt

-        child: asthenia, hypotension and hypoglycemia

3)   TSH deficiency: in the neonatal period: edema, short stature, prolonged neonatal jaundice and hypothermia

4)    LH - FSH deficiency: pubertal retardation, lack of prolactin secretion (lactation)

Anesthetic implications:

check substitutive opotherapy and maintain the same regimen during the perioperative period

References :

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Updated: April 2018