CHAPTER VI: THE WAR WITH THE CRANES
169 From the walls of the Prado. For the iconography of dwarfing see Tietze-Conrat (1957) and Emery (1996). Tanner (1981) pp.120–1 discusses Geoffroy and Buffon on dwarfs.
170 Were all the court dwarfs unhappy. See Boruwlaski’s memoirs (1792) and Heron (1986) for a modern account of his life.
175 At the base of our brains. See Laycock and Wise (1996) for the regulation of growth by the hypothalamus-pituitary pathway. Primary growth-hormone deficiency (262400) is caused by recessive mutations in the growth-hormone gene (139250). There is an enormous literature on this group of syndromes; see López-Bermejo et al. (2000) for a brief review.
176 Joseph Boruwlaski has all the signatures. The Ecuadorean dwarfs have Laron- or growth-hormone resistance syndrome (262500) caused by recessive mutations in the growth-hormone receptor gene (600946); see Rosenfeld et al. (1994) and Rosenbloom and Guevara-Aguirre (1998).
177 In 1782 Joseph Boruwlaski met. Frankcom and Musgrave (1976) write about Patrick Cotter; Bondeson (1997) about Charles Byrne; Thompson (1930, 1996) tells of both men as well as other famous eighteenth-century giants.
179 Charles Byrne had a pituitary tumor. See Keith (1911) for original diagnosis.
179 An old photograph shows a triptych of skeletons. See Schnitzer (1888) (Emin Pasha’s given name) for an account of how he obtained the skeletons. See Schweinfurth (1878) for an account of meeting Akadimoo. The Homeric quote is from The Iliad (1950 trans. E.V. Rieu, Penguin Books, Harmondsworth, UK). Tyson (1699, 1966); Schweinfurth (1878); de Quatrefages (1895); Cavalli-Sforza (1986) all give accounts of Greek and Roman writings on pygmies, but the authoritative work on pygmies in antiquity is Dasen (1993). See Addison (1721) for his verses on pygmies.
182 Addison’s poem. See Tyson (1699,1966) for his dissection of a ‘pygmie’; de Quatrefages (1895) says that the word ‘Aka’ can be found inscribed on the frescos of a fifth-century Egyptian tomb beneath a depiction of a dancing pygmy; Cavalli-Sforza (1986) repeats the story. This would be remarkable if true, but sadly Véronique Dasen assures me it is not.
183 The French anthropologist Armand de Quatrefages. See Schebesta (1952) and Weber (1995–99) for the history of the negritos; Diamond (1991) discusses theories about pygmy smallness. For the most recent study on the genetic relationships of Andaman Island negritos see Thangaraj et al. (2003).
185 The diagnosis of achondroplasia. The Attic vase is just one of many examples of Greek pygmy iconography given by Dasen (1993). Gates (1961) asserted thatpygmies have achondroplasia.
185 That pygmy proportions. The genetics of pygmy smallness are obscure, but the evidence seems to exclude a single locus with substantial dominance. See Shea and Bailey (1986), Shea and Gomez (1988) and Shea (1989) for an analysis of pygmy proportions.
187 The geographers, entranced by their acquisition. The history of Chair-Allah and Thibaut is given in de Quatrefages (1895) and Schweinfurth (1878); their growth curve is given in Cavalli-Sforza (1986) p.366.
188 A newborn infant grows. See Tanner (1990) p.12 for the pubertal growth spurt and Tanner (1981) pp.104–5 for the history of its study; see Bogin (1999) for pubertal spurts in other primates.
189 The pubertal spurt is driven. There is some disagreement as to whether pygmies show low IGF-1 serum titres or whether they have a less effective IGF-1 receptor relative to taller people. In any event, what we know about short stature in pygmies is based on endocrinological studies (Merimee et al. 1981; 1987; Geffner et al. 1995). The following note also bears on the interpretation of these data.
189 The proof of this is the mini-mouse. The account of the relationship between IGF and GH given here differs from the ‘somatomedin hypothesis’ given in most textbooks. Recent experiments have suggested that: (1) IGF-I’S primary role is as a paracrine (short-range) growth factor rather than an exocrine hormone; (2) that liver IGF-1 is responsible for most serum IGF, and that it contributes little to post-natal growth; (3) that IGF-1’s effects on growth are therefore to a considerable degree – though not entirely – inde pendent of GH’s. See Le Roith et al. (2001) for a review of these matters, and Lupu et al. (2001) for an account of the GHR; IGF-1 double knockout mouse.
190 Schweinfurth’s discovery set off a global hunt. See Haliburton (1891; 1894)for ‘pygmies’ in Spain, the Atlas Mountains and Switzerland. See Johanson and Edgar (1996) for the stature of fossil hominids and Bogin (1999a) p.3 for the ‘Maya in Disneyland’.
192 It is even possible that the most recent. Exploration accounts can be found in Kingdon-Ward (1924; 1937) and many other books by the same author. I first learned about the Burmese ‘pygmies’ from Prof. Harry Saing, who saw them while travelling in Kachin State in 1964. The Burmese government reports are given in Mya tu et al. (1962, 1966).
194 It is not a pretty word. For a general review of iodine deficiency diseases and cretinism see Delange and Hetzel (2000). Several reports from western China show a form of myxedmatous cretinism that has many of the features seen in the Taron. Various co-factors have been suggested for the extreme form of cretinism seen in the Congo such as selenium deficiency or a fondness for eating goitrogenic plants.
195 Cretinism is a global scourge. See Merke (1993) for Napoleon’s investigations into Swiss cretins and the iconography of cretinism in Aosta Cathedral. See Delange and Hetzel (2000) for the discovery of the thyroid and Laycock and Wise (1996) pp.203–40 for how it works. The hormone called here ‘thyroxine’ is, more formally, two hormones, tri and tetraiodothyronine or T3 and T4. Williams et al. (1998) discusses the cellular role of thyroxines on the growth plate. Among the many genes with known mutations causing a deficiency of thyroxine production or function are: thyroid peroxidase, an enzyme that is involved in thyroid hormone production (188450) (Abramowicz et al. 1992); thyroglobulin (606765), or the thyroid hormone receptor (190160) (Refetoff et al. 1996); as well as several other genes involved in the synthesis, transport or storage of thyroid hormone (de Vijlder et al. 1999; Vassart 2000). Mutations in all these genes tend to cause cretinism with goitre.
197 There is also a class of mutations more vicious by far. Among the genes with known mutations that affect the pituitary’s stimuation of the thyroid are those that encode: thyroid stimulating-hormone (TSH) itself (188540) (Hayashizaki et al. 1989) and those that cause combined pituitary hormone deficiency (CPHD) due to mutations in transcription factor genes such as PROP-1 (601538) and PIT-1 (173110) required for the specification of somatotroph, thyrotroph and lactotroph cells (Tatsumi et al. 1992; Voss and Rosenfeld 1992; Sornson et al. 1996; Wu et al. 1998). These mutations cause cretinism without goitre and with or without dwarfism.