Development and teratology of
the endocrine system
and pharyngeal apparatus of
the embryo
Anna Mac Gillavry Danylevska
15.5.2023
Pituitary gland
• Ectoderm (Rathke’s pouch)
• Neuroectoderm of ventral wall of diencephalon
Craniopharyngeal canal
Pharyngeal hypophysis
Agenesis/hypoplasia - agenesis is
incompatible with life;
panhypopituitarism
Duplication of the gland – very
rare
Ectopic posterior pituitary –
pituitary dwarfism
Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of
the pituitary gland (DPG)-plus syndrome. Case report and review of literature - Surgical Neurology
International
Craniopharyngiomas –
usually lie above the
sella; cause
hydrocephalus, growth
failure, diabetes
insipidus, lose of
peripheral vision
Pediatric Craniopharyngioma: Background, Pathophysiology, Epidemiology (medscape.com)
Epiphysis
• thickening of caudal part of
ependyma that does not
contribute to development of
choroid plexus at the roof of
diencephalon
• neuroectoderm
Pineal gland agenesis – mutations PAX6 (paired box gene 6)
Cureus | Pineal Gland Agenesis: Review and Case Illustration
Thyroid gland
• endodermal proliferation of pharyngeal floor
between tuberculum impar and copula
• obliterating ductus thyreoglossus
• foramen caecum
• bilobed diverticulum
• lobus pyramidalis
• C-cells
- neural crest origin
- ultimobranchial body of 5th pharyngeal pouch
Pyramidal lobe – in 50 % of
population
Congenital hypothyroidism (1/3000)
- ectopic thyroid
- hypoplasia, agenesis
- TSH deficiency
Ectopic thyroid gland – in 90 % cases
it is lingual thyroid gland; sublingual
thyroid gland
Thyroglossal duct cyst – clinically
important to distinguish from
ectopic thyroid gland!
Thyroglossal fistula
T.W. Sadler, Langman´s medical embryology,
12th edition
• glandulae parathyroideae superiores from endoderm of 4th pharyngeal pouch
• glandulae parathyroideae inferiores from dorsal process of 3rd pharyngeal pouch
- together with thymus descend to lower poles of thyroid
Embryonic development of parathyroid gland
Ectopic parathyroid tissue –
the inferior parathyroids are more variable in their position
Supranumerary parathyroid glands
Cortex
- Mesoderm ---> coelomic epithelium
• primitive fetal cortex 5-6th week
• definitive cortex
- zona reticularis fully differentiates within 3 years
Medulla
• neural crest
Suprarenal gland
Week10 adrenal - Endocrine - Adrenal Development - Embryology
(unsw.edu.au)
Congenital adrenal hyperplasia – group of autosomal recessive
disorders – excessive production of androgenes: causes rapid growth
and accelerated sceletal maturation in both sexes
Neck region
T.W. Sadler, Langman´s medical embryology, 14th edition
Neck region – pharyngeal apparatus
K. Moor, Before we are born, 9th edition
K. Moor, Before we are born, 9th edition
Ectopic thymic tissue
Ectopic parathyroid tissue
Branchial fistulas: external and
internal
Cervical cysts
Craniofacial defects associated with neural crest cells
- Mandibulofacial dysostosis – Treacher Collins
syndrome: autosomal dominant, 1/50000
- Robin sequence: first-arch structures, 1/8500 –
micrognatia, cleft palate and glossoptosis
- 22q11.2 deletion syndromes: DiGeorge syndrome,
DiGeorge anomaly, velocardiofacial syndrome etc.
- 1/4000
- Hemifacial microsomia (oculoauriculovertebral
spectrum – Goldenhar syndrome) – 1/5600,
assymetry in 65% cases; involves maxillary,
temporal, zygomatic bones, ears, eyes, vertebrae.
Cardiac deffects in 50% cases.
https://economictimes.indiatimes.com/magazines/panache/man-born-with-treacher-collins-syndrome-
was-rejected-by-biological-parents-36-hrs-after-birth-for-his-face-but-his-adoptive-mom-didnt-
care/articleshow/93541374.cms?from=mdr