Renato COCCHI, a neurologist and a medical psychologist


(Italian translation)



Fifty-six Down’s syndrome children aged 8-96 months at first consultation showed a small-sized penis. Parents reported lack of erection in 54 of them. Following an individually tailored drug therapy acting on GABA and related neurochemical circuits lasting on average 29.20 months, their penises were observed increased in size in 34 Ss (64.29%).

Parents reported erections in 42 of them (77.78%) after on average 30.35 months of this drug therapy.

To improve GABAergic function can favourably act on the hypothalamus-hypophysis-gonadal axis, as it could have done in these cases.

Key-words: Down's syndrome; penis size; erection; GABA; drug therapy.


Down's syndrome

Drug therapy of stress reactions

Mental retardation


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An evident small-sized penis is an aspect that always strikes when visiting a male Down’s syndrome child, being so also for the scrotum and testicles. One or both testicles can appear as not gone down into the scrotum.

This is a well-known datum regularly reported in the literature, whose incidence varies from 98% to 41% (Oster, 1983; Domino and Newman, 1965; Lewinson, Friedman and Stamps 1955; Schiavetti et al., 1984).

This research has the aim of referring a phenomenon first seen by the parents of children undergoing drug therapy prescribed by myself.

After a certain period of drug taking, several children with small-sized penises and without any erection showed an increased size of the penis, and sometimes morning erections.

These observations deserved a investigation and a report, although with all cautions due to careful attention only since a starting point. It does not refer to all children undergoing drug therapy who came back for checkup after a suitable time. So, this is a preliminary and orientation survey.

Subjects, materials and method

I investigated only male Down children having these features:- chromosomal diagnosis;- collected and noted in the clinical card during the first consultation: "a small-sized penis, with/without erection";

- drug therapy token at least for one year;

- collected and noted at the last checkup any variation in size of the penis (or, no variation at all);

- collected and noted at the last checkup any appearance of penis erection, as reported by the parents;

- maximum age of nine years at the last checkup, to avoid that results due to the pubertal development, can have a wrong attribution to the drug therapy.


Only 56 children fitted all the above criteria. Tables 1-3 show epidemiological data, timing of the drug therapy, results and their distribution.

Table 1: Epidemiological and clinical data of the sample

Average age at first consultation (months)

46.38 +/- 58.24

Range: 8-94




Distribution of chromosomal diagnoses



Standard trisomy 21

52 Ss



2 Ss



2 Ss





Small-sized penis observed at first consultation

56 Ss


Reported lack of erection at first consultation

54 Ss


Reported erection at first consultation

2 Ss



Table 2: Length of drug taking and time of noted variations

Increased penis size

36 Ss


Average length of drug taking (months)

29.29 +/- 20.15

Range: 12-83

Av. age when change was obser. (months)

61.73 +/- 28.56





Appearance of erections

42 Ss


Average length of drug taking (months)

30.35 +/- 17.60

Range: 12-72

Av. age when erections appeared (months)

68.11 +/- 24.79



Table 3: Distribution of both features after drug therapy.

Increased penis size and erections appearance

34 Ss


Increased penis size without any erection

2 Ss


Erections without increased penis size

8 Ss


Not increased penis size without any erection

10 Ss


Increased penis size in Ss with previous erections

1 S


Not increased penis size in Ss with previous erections

1 Ss




Since the increased penis size is a datum discovered by chance, and since I investigated it in a not systematic way, I wrote only a descriptive statistics.

Nevertheless, the distribution of the chromosomal diagnoses of my sample parallels both Italian and International standards.

In the authors above quoted there is a very large difference as for the prevalence of the symptom "small-sized penis." Being it reported within a 41-98% range is a fact that informs us about not similar criteria used in collecting the data.

Anyhow I need immediately say that we are dealing with a variable symptom. Oster, 1983, Domino and Newman, 1965, Levinson, Friedman and Stamps 1955, Schiavetti et al., 1984, did not find it in 2-59% of their investigated Downs.

As for any other variable symptom of the Down’s syndrome, it is fully independent from the chromosomal diagnosis. So we may imply that this symptom is close to all the other variable symptoms, and not directly depends on the presence of an extrachromosome 21. Moreover, it seems modified by drug therapies acting against stress reactions, as this research can suggest.

On the other hand, Schiavetti et al., 1984 wrote that the small penis size spontaneously disappears in pubertal age, perhaps a statement that needs confirmation.

Cautiously, present research dropped out the children of more than nine years at the last checkup, to have major security to misunderstand the symptoms of incoming puberty.

Of course, this last usually has also secondary sexual features never observed in these 56 cases. What is more, the increased size of the penis following drug therapy was always within the range of a prepubertal variance.

Quite different as for the erection, the appearance of which in 77.78% of children where parents never have previously observed, stands for a noticeable result.

Both penis size and erection, already independent from each other in not-treated Downs, remain not linked even after drug therapy. The appearance of the first does not imply the same for the second.

A separate and very speculative speech is that I am going to write to give a possible explanation about what happened.

As I wrote in past in several papers, the drug therapy I usually prescribe to Down children acts mainly on GABA and modulates stress reactions (Cocchi 1987a; Cocchi 1987b; Cocchi 1990; Cocchi, 1994; Cocchi, 1998)).

In Downs there is an internal metabolic stress following the acceleration of all the metabolisms the genes of which are located on the chromosome 21. A third functioning gene implies 150% increasing of the related metabolism, differently as for the metabolisms the control genes of which are on the remaining 20 chromosomes.

We read that the GABA has a precise action on the hypothalamus-hypophysis-gonadal axis, which is to say on the mechanisms of sexual development and reproduction (Larsson, 1979; Fernandez-guasti, Larsson and Beyer, 1985; Qureshi et al, 1988; Knobil and Neill, 1988).

In a previous research on sensitiveness to the environmental temperature in Downs I suggested a B-GABAergic inbalance of the hypothalamus (Cocchi, 1989)

As for myself, I don’t think I can go further, without entering a very specialized field, with the risk of less and less justifiable suggestions.

Although I referred these cases in a quite anecdotal way, 45 positive results out of 56 ought to lead thinking.


Cocchi R.:Terapia farmacologica nella sindrome di Down: Inquadramento teorico. In: Cocchi R., Belacchi C., Cercolani P. (a cura di): Risultati di 8 anni di terapia farmacologica nella sindrome di Down. GISSTIMMAI, Pesaro 1987a: 19-41

Cocchi R.: Reduction of susceptibility to upper respiratory tract infections in Down sindrome children following treatment with GABAergic drugs. Int. J. Psychosom (Philadelphia) 1987b, 34/2: 3-7.

Cocchi R. Sensibilita' alla temperatura ambientale nei soggetti Down: Una indagine su 432 casi. Riv. It. Disturbo Intellet. 1989, 1: 195-199.

Cocchi R.: Drug therapy in self-abuse behavior. Proceedings of the VIIIth World Congress of Psychiatry. ICS 900, Elsevier, Amsterdam 1990.

Cocchi R.: Drug therapy in Down's syndrome: A theoretical context. It. J. Intellect. Impair. 1994, 6: 143-154 (*)

Cocchi R.: Drug therapy of upper respiratory tract infections easiness in Downs: A survey on 328 persons. It. J. Intellect. Impair. 1998, 11: 9-17 (*).

Domino G., Newman A.: Relationship of physical stigmata to intellectual subnormality in mongoloids. Am. J. Ment. Defic. 1965, 69: 541-550.

Fernandez-Guasti A., Larsson K., Beyer C:: Comparison of the effects of different isomers of bicuculline infused in the preoptic area on male rat sexual behavior Experientia 1985, 41: 1414-1416.

Knobil E., Neill J.D. (eds): The physiology of reproduction. Ravem, New York, 1988.

Lewinson A: Friedman A., Stamps F.: Variability of mongolism. Pediatrics 1955, 14: 43-54.

Larsson K.: features of neuroendocrine control of masculine sexual behavior. In: Bayer C. 8ed): Endocrine control of sexual behavior. Raven, New York 1979: 77-163.

Oster J.: Mongolism. Danish Science Press, Copenhagen 1953.

Qureshi G.A., Bednar I., Forsberg G., Soedersten P.: GABA inhibits sexual behavior in female rats. Neuroscience 1988, 27: 169-174.

Schiavetti P., Barbano G.C., Forni G.L., Acutis M.S., Rasore-Quartino A.: Il fenotipo della sindrome di Down. Studio di 300 casi in eta' pediatrica. In. Ce.Pi.M: Aspetti epidemiologici, genetici, clinici, riabilitativi e sociali della sindrome di Down. CePiM Genova 1984: 201-208.


First printed in Italian on Riv. Ital.Disturbo. Intellet. 1990, 3: 145-148

English version on Internet: 31.03.2001, with two references added (*)


Author's address: Dr. Renato COCCHI, via Rabbeno, 3

42100 Reggio Emilia (Italy).

Italian translation

Down's syndrome
Drug therapy of stress reactions
Mental retardation
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